A Compendium of Human Mitochondrial DNA Control Region

42(3):315-327,2001
FORENSIC SCIENCES
A Compendium of Human Mitochondrial DNA Control Region: Development of an
International Standard Forensic Database
Kevin W. P. Miller, Bruce Budowle
Federal Bureau of Investigation, Washington DC, USA
A compendium of human mitochondrial DNA (mtDNA) control region types has been constructed. This updated
compilation indexes over 10,000 population-specific mtDNA nucleotide sequences in a standardized format. The sequences represent mtDNA types from the Scientific Working Group on DNA Analysis Methods (SWGDAM) mtDNA
database and from the public literature. The SWGDAM data are considered to be of higher quality than the public data,
particularly for counting the number of times a particular haplotype has been observed.
Key words: base sequence; databases, factual; DNA; DNA, mitochondrial; forensic medicine; gene frequency; genetics, population; molecular sequence data; United States
The analysis of the first and second hypervariable
segments (HV1 and HV2) of the control region of human mitochondrial genome (mtDNA) has proven to
be a useful tool for forensic identification (1), medical
genetics (2), population (3) and evolutionary studies
(4), and anthropological reconstruction (5). A concordance (ie, a compilation/compendium) of nucleotide
substitutions in HV1 and HV2 was first constructed in
1996 (6) and made available via the Internet
(http://shelob.bioanth.cam.ac/uk/mtDNA). Since then,
additional mtDNA population data have been developed, thus warranting another update.
In recent years, mtDNA typing has become increasingly important in forensics (7,8). As the number
of individuals typed increases, it is becoming more
difficult to access sequence data quickly and easily. It
is particularly desirable to determine if a sequence is
relatively rare or common for identity purposes (9).
Currently, the Federal Bureau of Investigation (FBI)
and others use the Scientific Working Group on DNA
Analysis Methods (SWGDAM) database (N=4,142)
for estimating the relative rarity of a mtDNA profile.
The compilation of other public mtDNA population
data can be useful in some identity cases, as well as in
other fields of genetic study.
The resulting reference list of types is in a standardized format, arranged by continent/country of origin and ethnicity, and includes all the population-specific mtDNA. The assembled data are referenced to the publication or source in which they originally appeared. The Compendium is an ongoing
SWGDAM project.
Material and Methods
A survey of sequences from the published literature and the
sequence databases GenBank and EMBL was conducted (Table
1). The mtDNA nucleotide sequence data contributed to the authors for inclusion in the original concordance and contributions
to SWGDAM are also included. All sequence information is included in the compilation.
The SWGDAM data contain sequences for nucleotide positions (np) for both HV1 (np 16024-16365) and HV2 (np 73-340)
for each individual. Sequence data are described as those np sites
that are different from the Cambridge Reference Sequence (CRS)
(82).
All sequences are compiled by continent and country of origin and numbered according to a standard 14 character
(“XXX.XXX.XXXXXX”) format (Table 2). In this format, the first
three characters identify the continent/country of origin. All country codes are the official country code designations published by
the United Nations (86) and are text characters. For example,
DEU defines Germany, and ESP defines Spain. Three zeros
(“000”) are used in this field to identify sequences that cannot be
attributed to a particular country.
The next three characters identify the population (Table 3).
These characters can be either text or numeric. Text identifies major population groups generally used by law enforcement agencies, such as “AFR” for African; “ASN” for Asian; “CAU” for Caucasian; and “HIS” for Hispanic. Exceptions to this arise from contributions from the field of archaeology/anthropology, such as
“ANC” for ancient people; “NED” for Neanderthal; and “TIM” for
Tyrolean Ice Man. Otherwise, a three-digit numerical designation
is given to identify a particular subgroup. For example, “154”
identifies Native Americans of the Navajo tribe.
The third set of digits identifies the individual sequence
within a particular group. These numbers are consecutive within
a particular group and are assigned arbitrarily in the order in
which they are entered into the Compendium. Thus, the sequence identifier “USA.154.000201” is the 201st Navajo
mtDNA sequence from the United States. Similarly,
“000.AFR.000003” is the 3rd sequence of African origin for
which a country was not defined. In instances where types arise
www.cmj.hr 315
Miller and Budowle: A Compendium of mtDNA Control Region
from individuals residing in territories that are governed by other
countries, the first three characters identify the country in political
control and the next three identify the people living in the territory. For example, the Polynesian people of New Britain in Melanesia are identified by “area code” 315. However, the island belongs politically to the United Kingdom. Therefore, the first sequence in a series from this group is identified
“GBR.315.000001”.
Results and Discussion
A total of 10,828 mtDNA sequences were obtained: 4,142 from SWGDAM and 6,686 from the
published literature/EMBL and GenBank (Table 1).
Other tabular information includes provenance,
number of populations, number of mtDNA types per
population, sequence range, and contributing author.
Miller et al (6) previously reported that when
compiling data from a number of sources inconsistencies may arise. During data collection, a few substitutions in some published and SWGDAM sequences
were clearly reviewed to be anomalous. When problems were suspected, authors were contacted and
asked to confirm their nucleotide sequence. Usually,
minor sequence errors were corrected with the author’s assistance. However, there are instances with
the public literature data where an author has not yet
responded to our requests or has asked that an incorrectly reported substitution not be corrected until the
laboratory could publish an erratum. Those requests
have been honored. However, the following disclaimer has been added to the published data: “This
compendium of human mtDNA control region types
is compiled from nucleotide sequence data available
in the public domain. Every attempt has been made
by the editors to ensure the accuracy of the data provided herein. However, some inaccuracies and inconsistencies may exist in the literature. It is possible
that some errors still remain. The authors do not accept responsibility or legal liability for the accuracy of
reported nucleotide sequences. If errors in the compendium are observed, we would appreciate you
bringing them to our attention for subsequent correction”. We recommend the use of published sequence
data for investigative or research purposes only and
not for the assignment of weight regarding forensic
matches.
Nucleotide numbering schemes (for example,
those given in refs. 23,27,87) that have deviated from
that originally published by Anderson and coworkers
(82) have been changed in order to standardize sites
of substitution. Where authors have not conformed to
a standardized numbering system, some confusion
resulting in ambiguity may arise. For example,
Barbujani et al (68) used a different numbering system
to denote nps than the forensic science community
currently uses. Table 4 provides an example of the
conversion of their data to be consistent with those
data in this Compendium.
Nucleotide additions that are not normally assigned positional numbers in the CRS have been assigned suffixes (X.1, X.2, etc.). For consistency, we
have chosen to number additions to the right of
homopolymeric stretches. In the study of HV2 by
Batista and coworkers (33), for example, additional
316
Croat Med J 2001;42:315-327
cytosines (C’s) were labeled 303.1, 303.2, and 313.1.
In our nomenclature, these same sites are numbered
309.1, 309.2, and 315.1. It is not altogether uncommon to find that insertions and deletions in the
polycytosine stretch of HV1 (np 16184-16193) are
left unrecorded. Therefore, caution must be exercised
while attempting to derive meaningful population-based frequency information from this area.
In homopolymeric stretches, the assignment of
np numbers for additions or deletions is done to minimize the number of substitutions recorded, unless np
numbers were specifically designated by the original
author.
The same number of individuals reported in an
original publication may not comport with that described in the Compendium. This is due to the fact
that while all mtDNA types, or lineages, may have
been reported in a publication, the total number of individuals sharing each mtDNA type was not specified. In such instances, each mtDNA type is reported
as a single individual. This underestimates the total
number of individuals represented. Therefore, estimating the rarity of a mtDNA profile from
non-SWGDAM data should be undertaken with caution. However, a search of the published data may be
informative about the general occurrence of a mtDNA
profile and its ethno-geopolitical distribution.
The same mtDNA types may be published multiple times, especially those that aim at inter-population
comparison. Such sequence data, however, are not always unambiguously attributed to its source. Attempts have been made not to place duplicate sequences in the Compendium.
Inconsistencies exist between the number of sequences that appear in the published literature on a
given population and the number of sequences that
have been submitted to GenBank for that population.
This may indicate the submission of haplotypes/lineages rather than individual data. It is, nonetheless, confusing. Attempts have been made to reconcile numbers
of sequences in the literature with numbers of sequences
in GenBank/EMBL. In addition, GenBank/EMBL accession
numbers may not accurately reflect the numbers of individuals originally reported.
Sequences have been removed from (or not included in) the Compendium due either to an inconsistent assignment of mitotypes to populations or to inconsistent definitions of the populations/groups themselves. For example, Shields et al (87) note that lineage
59 occurs in the Inupiaq (p. 553, column 2 of their paper) as well as in a single Yakima individual. However,
Table 3 (p. 556) of their paper shows lineage 59 belonging to one Yakima and to one West Greenland Eskimo.
Ambiguous and undetermined nps in published
sequences are provided within the sequence data to
denote the possibility of additional substitutions.
Ambiguities may also denote nucleotide sequence
heteroplasmy (e.g., in 74: np 16169 of Tsar Nicholas
is reported to be either a C or a T). In all cases, the
nomenclature of the International Union of Pure and
Applied Chemistry (IUPAC) is used. To facilitate fu-
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 1. Populations represented in the mtDNA Population Database. The forensic dataset consists of groups designated as
SWGDAM (asterisk) in the column labeled Ref. (reference number). The Public dataset is composed of groups for which a literature reference is provided
Region/
country
Africa
Algeria
Benin
Botswana
Central
African
Republic
Central
African
Republic
Central
African
Republic
Democratic
Republic of
Congo
Eastern
Senegal
Egypt
Egypt
Guinea,
Equatorial
Guinea,
Subsaharan
Ivory Coast
Kenya
Malawi
Morocco
Namibia
Niger
Nucleotide
Identification
positions
Population code
No. used
Ghardaia
NDa
Herero
DZA.AFR
BEN.AFR
BWA.337
78
13
20
Mbuti
Pygmy
CAF.320
5
ND
CAF.320
19
16024-16381; 14
63-374
ND
CAF.AFR
10
16028-16569; 15
1-41
ND
COD.AFR
SEN.327
10
11
12
13
16028-16569; 15
1-41
Niokolo
Madenka
Ancient
people
ND
EGY.ANC
119 16024-16368; 16
64-375
1
16210-16254 17
EGY.AFR
24
Bubi
GNQ.325
50
16024-16365; *b
73-340
16024-16383 18
ND
GIN.334
11
15997-16339 19
ND
ND
ND
IVC.AFR
KEN.AFR
MWI.AFR
1
1
7
16086-16519
16086-16519
16082-16353;
64-324
15997-16399
Rif
MAR.332
Mountains
Kung!
NAM.336
Nigeria
Nigeria
Nigeria
Ancient
peoples
Bantuspeaking
ND
ND
Yoruban
NGA.AFR
NGA.AFR
NGA.007
ND
Mbanderu
BWA.342
ND
Naron
BWA.341
Niger
1
16090-16370
16190-16370
16204-16381;
63-374
71-270
Ref.
18
25
NER.ANC
2
NER.318
24
19
16024-16381; 12
63-374
16037-16420 21
ND
ND
Sierra Leone ND
000.AFR
SKE.AFR
South Africa Biaka
ZAF.314
South Africa Biaka
South Africa Nguni
South Africa ND
ZAF.314
ZAF.310
ZAF.CAU
South Africa San
South Africa SothoTswana
South Africa Tsonga
Tanzania
Hazda
ZAF.311
ZAF.312
16082-16353;
64-324
1
16086-16519
7
16024-16389
14 16024-16381;
63-374
7
16024-16381;
63-374
1
16024-16381;
63-374
3
16086-16519
110 16024-16365;
73-340
18 16024-16381;
63-374
5
71-270
14 71-270
1
16048-16569;
1-41
14 71-270
22 71-270
ZAF.313
TZA.343
14
17
Uganda
UGA.AFR
1
ND
15
15
20
20
Region/
country
Nucleotide
Identification
positions
Population code
No. used
Zambia
ND
ZMB.AFR
1
Zimbabwe
ND
ZWE.AFR
1
BLZ.345
CAN.030
CAN.030
CAN.080
CAN.CAU
CAN.328
28
22
4
18
1
63
16067-16344
16024-16383
16030-16370
16024-16383
16086-16519
16024-16383
CRI.319
GTM.296
27
23
16003-16392 28
16022-16363 29
MEX.138
4
16030-16370 26
000.333
72
16129-16569 30
USA.328
USA.305
2
3
16024-16400 31
16030-16370 26
USA.173
USA.252
PAN.302
PAN.329
PAN.301
PAN.301
3
2
2
39
1
46
16030-16370
16030-16370
16030-16370
16040-16400
16030-16370
16040-16400
26
26
26
32
26
32
PAN.298
64
16030-16400;
39-380
32 16040-16400
795 16024-16365;
73-340
1
16030-16370
33
America, North
Belize
Carib
Canada
Bella Coola
Canada
Bella Coola
Canada
Haida
Canada
ND
Canada
Nuu-ChahNulth
Costa Rica Quitirrisi
Guatemala Santa Cruz
de Quiche
Mexico
Yucatan
Peninsula
ND
Native
American
ND
Nuu-Chah
ND
Ojibwa/
Chippewa
ND
Pima
ND
Tlingit
Panama
Boruca
Panama
Embera
Panama
Guayami
Panama
Guaymi/
Ngobe
Panama
Kuna
Panama
United
States
United
States
United
States
USA
Wouman
African
American
Apache
PAN.330
USA.AFR
Apache
USA.008
USA.ASN
USA.008
Ref.
16048-16569; 15
1-41
16048-16569; 15
1-41
24
25
26
25
15
27
32
*b
26
180 16024-16365; *b
73-340
1
16024-16381 14
14
USA
USA
USA
15
*b
USA
USA
Asian
American
European
American
Hawaiian
Hawaiian
Hispanic
American
Navajo
Navajo
23
USA
ND
13
13
15
USA
Oneota
USA
Windover
America, South
Argentina
Mapuche
USA.331
USA.295
1406 16024-16365;
73-340
2
16192-16420
15 16193-16370
694 16024-16365;
73-340
2
16030-16370
150 16024-16365;
73-340
3
16129-16365;
73-340
52 16056-16409
14 16151-16317
ARG.297
39
Argentina
Brazil
ARG.303
BRA.AFR
3
42
16050-16400; 38
70-370
16030-16370 26
16024-16365 39
BRA.300
92
16047-16405 40
BRA.ANC
18
16047-16380 41
15
22
12
14
13
13
71-270
13
16024-16381; 12
63-374
16048-16569; 15
1-41
USA
Brazil
Brazil
Mutaco
African
origin
Amazon
region, ND
Ancient
people
USA.CAU
USA.087
USA.087
USA.HIS
USA.154
USA.154
USA.AFR
*b
34
11
*b
26
*b
35
36
37
317
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 1. Continued…
Region/
country
Brazil
Brazil
Brazil
Brazil
Columbia
Tristan da
Cunha
Venuzuela
Asia
Cambodia
China
China
Nucleotide
Identification
positions
Population code
No. used
Krahoa
Surucucu,
Catrimani
Ticuna
Yanomama
Ancient
People
Indigenous
BRA.304
BRA.299
3
50
BRA.344
BRA.299
COL.ANC
3
3
6
GBR.340
5
ND
VEN.338
1
ND
KHM.ASN
Hong Kong CHN.ASN
ND
CHN.ASN
12
20
2
China
China
China
China
ND
ND
ND
Taiwan
CHN.ASN
CHN.ASN
CHN.ASN
CHN.ASN
4
1
16
34
China
China
China
Taiwan
Taiwan
Taiwan
CHN.ASN
CHN.ASN
CHN.ASN
6
1
65
China
China
India
CHN.ASN
CHN.306
IND.CAU
28
1
48
IND.CAU
50
IND.CAU
IDN.ASN
1
27
Indonesia
Indonesia
Indonesia
Japan
Japan
Japan
Taiwan
Siberia
Karnataka,
Kerala:
Havik
Kumtataluka: Murki
ND
Moluccas
and Nusa
Tenggaras
Islands
ND
ND
ND
Chiose
Kano
ND
Japan
ND
JPN.ASN
Japan
ND
JPN.ASN
Japan
ND
JPN.ASN
India
India
Indonesia
71-270
16024-16400
16024-16381;
63-374
16086-16519
16190-16370
71-270
16064/1618916375
16030-16370
16024-16381
16048-16569;
1-41
16024-16390
16030-16370
15997-16401;
29-408
JPN.ASN
JPN.ASN
JPN.ASN
JPN.ASN
JPN.ASN
JPN.ASN
JPN.ASN
KAZ.ASN
KAZ.ASN
KOR.ASN
2
3
1
1
55
54
182
Korea
Korea
Korea
KOR.ASN
KOR.ASN
KOR.ASN
4
3
2
318
26
26
43
13
31
14
15
11
13
45
26
14
46
47
26
48
15997-16401; 48
29-408
16086-16519 15
16024-16395 49
ND
ND
Ryukyu/
Okinawa
Japan
Suttu
Japan
Taka
Japan
Toda
Japan
Urawa
Kazakhstan Kazakh
Kazakhstan Uighurs
Korea
ND
ND
ND
ND
Ref.
26
42
15996-16401; 44
29-408
16030-16370 26
16086-16519
16024-16381
16190-16370
16190-16379
16190-16379
16024-16365;
73-340
1
16024-16381;
63-374
100 16024-16399;
56-373
62 16048-16569;
1-41
1
16190-16370
19 71-270
50 16190-16379
Japan
Japan
Japan
IDN.ASN
IDN.ASN
IDN.ASN
JPN.ASN
JPN.ASN
JPN.ASN
16030-16370
16003-16393;
30-396
16030-16370
16030-16370
16049-16401
1
1
7
1
3
163
16190-16379
16190-16379
16190-16379
16190-16379
16024-16383
16024-16383
16024-16365;
73-340
16030-16370
16086-16519
71-270
15
23
11
15
15
*b
23
50
15
11
13
15
15
15
15
15
51
51
*b
52
15
13
Region/
country
Nucleotide
Identification
positions
Population code
No. used
Ref.
Korea, South ND
Krygyzstan Kirghiz
Laos
H!mong
Malaysia
ND
Malaysia
ND
Malaysia
Sabah
Mongolia
ND
ND
ND
ND
ND
KOR.ASN
KGZ.ASN
LAO.ASN
MYS.ASN
MYS.ASN
MYS.ASN
MNG.ASN
000.ASN
000.ASN
64
96
1
1
6
36
83
13
14
ND
ND
000.ASN
23
Philippines
Philippines
Philippines
Thailand
ND
ND
ND
ND
PHL.ASN
PHL.ASN
PHL.ASN
THA.ASN
1
1
35
69
Viet Nam
Australia
New
Zealand
New
Zealand
New
Zealand
ND
ND
ND
ND
VNM.ASN
9
16086-16519
16024-16383
16190-16370
16217-16261
71-270
16064-16375
16020-16400
71-270
16024-16381;
63-374
16024-16389;
56-374
16024-16381
16086-16519
16189-16375
16024-16569;
1-576
71-270
46
51
11
11
13
45
53
13
12
Aoteoroa
NZL.ASN
24
16189-16375 45
Chatham
Islands
Maori
NZL.317
1
16192-16420 34
NZL.323
292 16189-16365 54
22
14
15
45
*b
13
ND
AUS.294
ND
AUS.CAU
Waripiri and AUS.326
Pallintji /
Ngyiambaa
9
16190-16370 11
1
16086-16519 15
115 15997-16377 55
AUT.ANC
1
Austria
Ancient
people
Caucasian
AUT.CAU
Bulgaria
Caucasian
BGR.CAU
Denmark
Caucasian
DNK.CAU
Denmark
Estonia
Caucasian
Caucasian
DNK.CAU
EST.CAU
Estonia
Caucasian
Faroe Islands Caucasian
EST.CAU
DNK.CAU
Finland
Finland
Finland
FIN.CAU
FIN.CAU
FIN.CAU
FIN.CAU
FRA.ANC
298 16024-16383 61
3
16037-16420 21
France
Caucasian
Caucasian
Central and
Southern
Saami
Ancient
People
Caucasian
101 16024-16400;
30-394
30 15997-16400;
30-406
19 16024-16324;
63-332
28 16069-16365
1
16024-16381;
63-374
28 16024-16383
22 16024-16324;
63-332
50 16024-16383
32 16024-16383
29 16090-16365
FRA.CAU
France
France
France
Caucasian
Caucasian
Chambery
FRA.CAU
FRA.CAU
FRA.CAU
Germany
Caucasian
DEU.CAU
Germany
Caucasian
DEU.CAU
Germany
Caucasian
DEU.CAU
109 16024-16365;
73-340
2
16086-16519
20 71-270
18 16024-16324;
63-322
200 15996-16569;
1-618
50 16024-16365;
73-340
109 16024-16365;
73-340
Europe
Austria
Finland
France
16056-16402 56
57,
*b
58
59
60
23
61
59
61
62
60
*b
15
13
59
63
64
65
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 1. Continued…
Region/
country
Nucleotide
Identification
positions
Population code
No. used
Ref.
Germany
Germany
Greece
Iceland
Iceland
Iceland
Caucasian DEU.CAU
Neanderthal DEU.NED
ND
GRC.CAU
Caucasian ISL.CAU
Caucasian ISL.CAU
Caucasian ISL.CAU
107
1
1
39
14
21
60
66
67
61
60
59
Italy
Italy
Italy
Caucasian ITA.CAU
Sardinia
ITA.CAU
South Tyrol ITA.CAU
and Trentino
Tuscany
ITA.CAU
21
46
62
16090-16365
16023-16400
16024-16409
16024-16383
16069-16365
16024-16324;
63-322
106-357
16024-16409
16024-16383
70
71
13c
61
10
60
26
73
61
73
26
74
Italy
Netherlands Caucasian
NLD.CAU
Norway
Caucasian
NOR.CAU
Norway
ND
ND
Portugal
Portugal
Russia
Saami
Caucasian
Saami
Caucasian
Caucasian
Evenk and
Tungus
Itel’men
Karelian
Koryk
Nivkh
Romanov
NOR.CAU
000.CAU
000.CAU
PRT.CAU
PRT.CAU
RUS.307
16051-16362;
57-319
1
16048-16569;
1-41
30 16024-16324;
63-322
197 15997-16401
107
100 15997-16401
40 16090-16370
30 16090-16365
11 16030-16370
RUS.321
RUS.CAU
RUS.324
RUS.308
RUS.CAU
46
83
147
2
11
Russia
Russia
Russia
Russia
Russia
Russia
Russia
Saudi
Arabia,
Israel, and
Yemin
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
Spain
15
71
Udegey
RUS.309
Volga
RUS.CAU
Bedouins, 000.MLE
Arabs, and
Jews
3
34
39
16000-16525
16024-16383
16000-16525
16030-16370
16020-16400;
48-408
16030-16370
16024-16383
16024-16409
Andalusia
Basques
Basques
Basques
Canary
IslandsTenerife
Catalonia
Caucasian
Caucasian
ESP.CAU
ESP.CAU
ESP.CAU
ESP.CAU
ESP.322
15
45
42
55
54
16090-16370
16024-16383
16090-16370
16069-16365
15997-16399
10
75
10
60
19
ESP.CAU
ESP.CAU
ESP.CAU
15
30
78
Caucasian
Caucasian
Galacia
Northern
Region
Zaragoza
ESP.CAU
ESP.CAU
ESP.CAU
ESP.CAU
11
18
92
30
16090-16370
16090-16365
16024-16569;
1-576
16090-16370
15997-16399
16024-16383
16090-16370
10
60
76,
*b
10
19
77
10
ESP.CAU
103 16024-16391;
60-380
154 16020-16400;
40-400
74 16024-16383
1
16086-16519
29 16097-16400;
30-400
45 16024-16401
78,
*b
79
Switzerland Caucasian
CHE.CAU
Switzerland Caucasian
Switzerland Caucasian
Turkey
ND
CHE.CAU
CHE.CAU
TUR.CAU
Turkey
TUR.CAU
a
47
68
67
69
ND
26
61
67
80
15
58
81
Region/
country
Turkey
Nucleotide
Identification
positions
Population code
No. used
UK
UK
Western
Region
Cambridge
Reference
Sequence
Caucasian
Caucasian
UK
Cornwall
GBR.CAU
UK
UK
Cornwall
Glasgow
GBR.CAU
GBR.CAU
UK
Hebrides
GBR.CAU
UK
Northern
GBR.CAU
Ireland
Northumber GBR.CAU
land
Orkney
GBR.CAU
Islands
Wales
GBR.CAU
UK
UK
UK
22
16090-16365 60
GBR.CRS
1
All
GBR.CAU
GBR.CAU
5
16086-16519 15
100 16024-16400; 83,
30-394
20 16024-16324; 59
63-322
50 16069-16365 60
3
16020-16478; 84
84-327
19 16024-16324; 59
63-322
37 16024-16324; 59
63-322
19 16024-16324; 59
63-322
89 16024-16324; 59
63-322
92 16090-16365 60
UK
Oceania
Cook Islands ND
COK.317
Marques
Polynesian FRA.317
Marshall
ND
MHL.317
Islands
Melanesia New Britain GBR.315
Micronesia Kapingamar FSM.316
angi
FSM.316
Micronesia Kosrae
(Caroline
Islands)
ND
Polynesian FRA.317
ND
Yap
FSM.316
Papua New Highland
PNG.339
Guinea
Papua New ND
PNG.339
Guinea
Papua New ND
PNG.339
Guinea
Papua New ND
PNG.339
Guinea
Papua New ND
PNG.339
Guinea
Samoa,
ND
WSM.317
American
Samoa,
ND
WSM.317
American
Samoa,
Savai’l and WSM.317
American
Upola
Sao Tome
Bioko Island STP.AFR
Society
Polynesian FRA.317
Islands
Tahiti
Polynesian FRA.317
Tonga
Polynesian TGO.317
Tonga
Polynesian TGO.317
Tonga
Vanuatau
Vanuatau
Vanuatau
2
41
1
51
Polynesian
Nguna
ND
ND
Ref.
TUR.CAU
TGO.317
VUT.315
VUT.315
VUT.315
82
79
19
5
16189-16375 45
16189-16375 45
16189-16375 45
2
16
16192-16420 34
16189-16375 45
1
16192-16420 34
3
1
3
16189-16375 45
16192-16420 34
16190-16370 11
19
23
16024-16381; 23
63-374
16024-16595 49
1
16086-16519 15
9
17
16164/16189- 45
16375
16024-16395; 49
41-401
16190-16370 11
24
16064-16375 45
95
1
16024-16383 18
16192-16420 34
4
6
1
16189-16375
16064-16375
16024-16381;
63-374
16190-16370
16041-16400
16041-16400
16064-16375
24
45
45
23
11
34
85
45
ND – Not defined.
SWGDAM – Scientific Working Group for DNA Analysis Methods.
References 13,14,15,22,48,72.
b
c
319
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 2. Country codes used in the sequence identifier to designate the country of origin (86)
Country
Code Adjective
Country
Code Adjective
Afghanistan (the Islamic State of)
Albania (the Republic of)
Algeria (the People’s Democratic
Republic of)
Andorra (the Principality of)
Angola (the Republic of)
Antigua and Barbuda
AFG
ALB
DZA
Djibouti (the Republic of)
DJI
Afghan
Albanian
Algerian
AND Andorran
AGO Angolan
ATG Antigua and
Barbuda (of)
Argentina (the Argentine Republic) ARG Argentine
Armenia (the Republic of)
ARM Armenian
Australia
AUS Australian
Austria (the Republic of)
AUT Austrian
Azerbaijan (the Azerbaijani
AZE Azerbaijani
Republic)
Bahamas (the Commonwealth of
BHS Bahamian
the)
Bahrain (the State of)
BHR Bahraini
Bangladesh (the People’s Republic BGD Bangladesh (of) / a
of )
Bangladeshi
Barbados
BRB Barbadian
Belarus (the Republic of)
BLR Belarusian
Belgium (the Kingdom of)
BEL Belgian
Belize
BLZ Belizean
Benin (the Republic of)
BEN Beninese
Bhutan (the Kingdom of)
BTN Bhutanese
Bolivia (the Republic of)
BOL Bolivian
Bosnia and Herzegovina
BIH Bosnia and
Herzegovina (of)
Botswana (the Republic of)
BWA Botswana (of)
Brazil (the Federative Republic of) BRA Brazilian
Brunei Darussalam
BRN Brunei Darussalam
(of)
Bulgaria (the Republic of)
BGR Bulgarian
Burkina Faso
BFA Burkina Faso (of)
Burundi (the Republic of)
BDI Burundian/ (of)
Burundi
Cambodia (the Kingdom of)
KHM Cambodian
Cameroon (the Republic of)
CMR Cameroonian
Canada
CAN Canadian
Cape Verde (the Republic of)
CPV Cape Verdean
Central African Republic (the)
CAF Central African, of
the Central African
Republic
Chad (the Republic of)
TCD Chadian
Chile (the Republic of)
CHL Chilean
China (the People’s Republic of)
CHN Chinese (Taiwanese)
including Taiwan province
Colombia (the Republic of)
COL Colombian
Comoros (the Islamic Federal
COM Comorian
Republic of)
Congo (the Democratic Republic of) COD Congolese; of the
Democratic
Republic of the
Congo
Congo (the Republic of the)
COG Congolese
Cook Islands (the)
COK Cook Islands (of the)
Costa Rica (the Republic of)
CRI Costa Rican
Cote d’Ivoire (the Republic of)
CIV Ivorian
Croatia (the Republic of)
HRV Croatian
Cuba (the Republic of)
CUB Cuban
Cyprus (the Republic of)
CYP Cypriot
Czech Republic (the)
CZE Czech
Denmark (the Kingdom of)
DNK Danish; a Dane
320
Djibouti (of); a
Djiboutian
Dominica (the Commonwealth of) DMA Dominica (of)
Dominican Republic (the)
DOM Dominican
Ecuador (the Republic of)
ECU Ecuadorian
Egypt (the Arab Republic of)
EGY Egyptian
El Salvador (the Republic of)
SLV Salvadoran
Equatorial Guinea (the Republic of) GNQ Equatorial Guinea
(of)
Eritrea
ERI
Eritrean
Estonia (the Republic of)
EST Estonian
Ethiopia (Federal Democratic
ETH Ethiopian
Republic of)
Fiji (the Republic of)
FJI
Fiji (of)
Finland (the Republic of)
FIN Finnish; a Finn
France (the Republic of)
FRA French; a
Frenchman
Gabon (the Republic of)
GAB Gabonese
Gambia (the Republic of the)
GMB Gambian
Georgia
GEO Georgian
Germany (the Federal Republic of) DEU German
Ghana (the Republic of)
GHA Ghanaian
Greece (the Hellenic Republic of)
GRC Greek
Grenada
GRD Grenadian
Guatemala (the Republic of)
GTM Guatemalan
Guinea (the Republic of)
GIN Guinean
Guinea-Bissau (the Republic of)
GNB Guinea-Bissau (of)
Guyana (the Republic of)
GUY Guyanese
Haiti (the Republic of)
HTI Haitian
Holy See (the): also known as the VAT Holy See (of the)
Vatican City State
Honduras (the Republic of)
HND Honduran
Hungary (the Republic of )
HUN Hungarian
Iceland (the Republic of)
ISL
Icelandic; an
Icelander
India (the Republic of)
IND Indian
Indonesia (the Republic of)
IDN Indonesian
Iran (the Islamic Republic of)
IRN Iranian
Iraq (the Republic of)
IRQ Iraqi
Ireland: also known as Eire
IRL
Irish; an Irishman
Israel (the State of)
ISR
Israeli
Italy (the Republic of)
ITA Italian
Ivory Coast (the Republic of the)
IVC
Jamaica
JAM Jamaican
Japan
JPN Japanese
Jordan (the Hashemite Kingdom of) JOR Jordanian
Kazakhstan (the Republic of)
KAZ Kazakh
Kenya (the Republic of)
KEN Kenyan
Kiribati
KIR Kiribati (of)
Korea (the Democratic People’s
PRK Korea (of the
Republic of)
Democratic People’s
Republic of)
Kuwait (the State of)
KWT Kuwaiti
Kyrgyzstan: also known as the
KGZ Kyrgyz
Kyrgyz Republic
Lao People’s Democratic Republic LAO Lao; a Lao
(the)
Latvia (the Republic of)
LVA Latvian
Lebanon: also known as the
LBN Lebanese
Lebanese Republic
Lesotho (the Kingdom of)
LSO Lesotho (of)
Liberia (the Republic of)
LBR Liberian
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 2. Continued…
Country
Code Adjective
Country
Code Adjective
Libyan Arab Jamahiriya (the
Socialist People’s)
Liechtenstein (the Principality of)
Lithuania (the Republic of)
Luxembourg (the Grand Duchy of)
Macedonia (the former Yugoslav
Republic of )
LBY
Libyan
LIE
LTU
LUX
MKD
Liechtenstein (of)
Lithuanian
Luxembourg (of)
Macedonia (of the
former Yugoslav
Republic of)
Malagasy
Malawian
Malaysian
Maldivian
Malian
Maltese
Marshall Islands (of
the), Marshallese
Mauritanian
Mauritian
Mozambican
Mexican
Saint Lucia
Saint Vincent and the Grenadines
LCA
VCT
Madagascar (the Republic of)
MDG
Malawi (the Republic of)
MWI
Malaysia
MYS
Maldives (the Republic of)
MDV
Mali (the Republic of)
MLI
Malta (the Republic of)
MLT
Marshall Islands (the Republic of
MHL
the)
Mauritania (the Islamic Republic of) MRT
Mauritius (the Republic of)
MUS
Mazambique (the Republic of)
MOZ
Mexico: also known as the United MEX
Mexican States
Micronesia (the Federated States of) FSM Micronesia (of the
Federated States of )
Monaco (the Principality of)
MCO Monegasque
Mongolia
MNG Mongolian
Morocco (the Kingdom of)
MAR Moroccan
Myanmar (the Union of)
MMR Myanmar
Namibia (the Republic of)
NAM Namibian
Nauri (the Republic of)
NRU Nauruan
Nepal (the Kingdom of)
NPL Nepalese
Netherlands (the Kingdom of the) NLD Netherlands; a
Netherlander
New Zealand
NZL New Zealand (of); a
New Zealander
Nicaragua (the Republic of)
NIC Nicaraguan
Niger (the Republic of the)
NER Niger (of the)
Nigeria (the Federal Republic of)
NGA Nigerian
Norway (the Kingdom of)
NOR Norwegian
Oman (the Sultanate of)
OMN Omani
Pakistan (the Islamic Republic of) PAK Pakistan (of); a
Pakistani
Palau (the Republic of)
PLW Palau (of)
Panama (the Republic of)
PAN Panamanian
Papua New Guinea
PNG Papua New Guinea
(of); a Papua New
Guinean
Paraguay (the Republic of)
PRY Paraguayan
Peru (the Republic of)
PER Peruvian
Philippines (the Republic of the)
PHL Philippine; a
Filipino
Poland (the Republic of)
POL Polish; a Pole
Portugal: also known as the
PRT Portuguese
Portuguese Republic
Qatar (the State of)
QAT Qatar (of)
Korea (the Republic of)
KOR Korea (of the
Republic of )
Moldova (the Republic of)
MDA Moldovan
Romania
ROM Romanian
Russian Federation (the)
RUS Russian Federation,
Russian (of the)
Rwanda: also known as the
RWA Rwandan
Twandese Republic
Saint Kitts and Nevis
KNA Saint Kitts and
Nevis (of)
Saint Lucian
Saint Vincent and
the Grenadinces (of)
Samoa (the Independent State of) WSM Samoan
San Marino (the Republic of)
SMR San Marino (of)
Sao Tome and Principe (the
STP Sao Tome and
Democratic Republic of)
Principe (of)
Saudi Arabia (the Kingdom of)
SAU Saudi Arabian
Senegal (the Republic of)
SEN Senegalese
Seychelles (the Republic of)
SYC Seychelles (of); a
Seychellois
Sierra Leone (the Republic of)
SKE Sierra Leonean
Singapore (the Republic of)
SGP Singaporean
Slovakia: also known as the Slovak SVK Slovak
Republic
Slovenia (the Republic of)
SVN Slovene
Solomon Islands
SLB Solomon
Islands (of)
Somalia: also known as the Somali SOM Somali
Democratic Republic
South Africa (the Republic of)
ZAF South African
Spain (the Kingdom of)
ESP Spanish; a Spaniard
Sri Lanka (the Democratic Socialist LKA Sri Lankan, (of) Sri
Republic of)
Lanka
Sudan (the Republic of the)
SDN Sudanese
Suriname (the Republic of)
SUR Surinamese
Swaziland (the Kingdom of)
SWZ Swazi
Sweden (the Kingdom of)
SWE Swedish; a Swede
Switzerland: also known as the
CHE Swiss
Swiss Confederation
Syrian Arab Republic (the)
SYR Syrian
Tajikistan (the Republic of)
TJK Tajik
Thailand (the Kingdom of)
THA Thai
Togo: also known as the Togolese
TGO Togolese
Republic
Tonga (the Kingdom of)
TON Tongan
Trinidad and Tobago (the Republic TTO Trinidad and Tobago
of)
(of)
Tunisia (the Republic of)
TUN Tunisian
Turkey (the Republic of)
TUR Turkish; a Turk
Turkmenistan
TKM Turkmen
Tuvalu
TUV Tuvaluan
Uganda (the Republic of)
UGA Ugandan
Ukraine
UKR Ukrainian
United Arab Emirates (the)
ARE United Arab
Emirates (of the)
United Kingdom of Great Britain
GBR British, of the
and Northern Ireland (the)
United Kingdom
(of Great Britain and
Northern Ireland)
United Republic of Tanzania (the) TZA Tanzanian
United States if America (the)
USA American, of the
United States of
America
Uruguay (the Eastern Republic of) URY Uruguayan
Uzbekistan (the Republic of)
UZB Uzbek
Vanuatu (the Republic of)
VUT Vanuatu (of)
Venezuela (the Republic of)
VEN Venezuelan
Viet Nam (the Socialist Republic of) VNM Vietnamese
Yemen (the Republic of)
YEM Yemeni; a Yemenite
Yugoslavia
YUG Yugoslav
Zambia (the Republic of)
ZMB Zambian
Zimbabwe (the Republic of)
ZWE Zimbabwean
321
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 3. Codes (alphabetic and numeric) used in the sequence identifier to designate group or ethnic affiliation
Tribe
Aborigine
Aborigine
Code
0.294
0.326
Achumawi
0.001
African origin
AFR
AfroCarribean
AFC
Ahtena
0.002
Algonkin
0.003
Alsea
0.004
Alutiq
0.005
Amazon region:
0.300
undefined
Amazon region:
0.299
Yanomami
Anasazi
0.006
Ancient
ANC
Apache, Aravaipa 0.009
Apache, Chiricahua 0.010
Apache, Jicarilla
0.011
Apache, Kiowa
0.012
Apache, Lipan
0.013
Apache, Mescalero 0.014
Apache, Mimbreno 0.015
Apache, ND
0.008
Apache, San Carlos 0.016
Apache, Tonto
0.017
Apache, White
0.018
Mountain
Apache, Yavapai
0.019
Arapaho
0.020
Arikara
0.021
Asian origin
ASN
Assiniboin
0.022
Athabaskan
0.023
Atsugewi
0.024
Aztec
0.025
Bannock
0.026
Bantu-Speaking
0.318
Bear River Indians 0.027
Beaver
0.028
Bella Bella
0.029
Bella Coola
0.030
Beothuk
0.031
Berber
0.332
Biaka
Blackfoot
Blood
Boruca
Bubi
0.314
0.032
0.033
0.302
0.325
Cahto
0.034
Cahuilla
0.035
Cambridge
CRS
Reference Sequence
Canary Islander
0.322
Region
NDa
Waripiri and
Paalintji/Ngiyambaa
California
ND
ND
Subarctic
Subarctic
Pacific Northwest
Arctic
Amazon Region
USA
USA
USA
USA
Brazil
Roraima
Brazil
Southwest
Ancient people
Southwest
Southwest
Southwest
Great Plains
Southwest
Southwest
Southwest
North America
Southwest
Southwest
Southwest
USA
ND
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Southwest
Great Plains
Great Plains
ND
Great Plains
Subarctic
California
Middle America
Great Basin
South Eastern Africa
California
Subarctic
Pacific Northwest
Pacific Northwest
Subarctic
Northern Morocco:
Rif Mountains
ND
Great Plains
Great Plains
Western Region
Bioko Island
USA
USA
USA
California
California
Caribs
CAR
West Coast North
Africa
ND
Carrier
Caucasian
Cayuse
Chastacosta
Chehalis
Chelan
Chemehuevi
Cheyenne
Chilcotin
Chilula
Chimariko
Chinook
Chipewyan
0.036
CAU
0.037
0.038
0.039
0.040
0.041
0.042
0.043
0.044
0.045
0.046
0.047
Subarctic
ND
Plateau
Pacific Northwest
Pacific Northwest
Plateau
Great Basin
Great Plains
Subarctic
California
California
Pacific Northwest
Subarctic
322
Country
Australia
Australia
USA
USA
USA
USA
USA
USA
ND
USA
USA
USA
USA
USA
Morocco
South Africa
USA
USA
Panama
Equatorial
Guinea
USA
USA
Spain
Caribbean
Area
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Tribe
Chumash
Clatsop
Coahuiltec
Coast Salish
Cochimi
Cocopa
Coeur d’Alene
Columbia
Colville
Comanche
Comox
Concho
Coos
Coquille
Costanoan
Cowichan
Cowlitz
Cree
Crow
Cupeno
Dakota
Dogrib
Duwamish
Embera
Esselen
Evenk/Tungus
Eyak
Fang
Flathead
Gabrielino
Gitksan
Goshute
Gros Ventre
Guachichil
Guaicura
Guam
Code
0.048
0.049
0.050
0.051
0.052
0.053
0.054
0.055
0.056
0.057
0.058
0.059
0.060
0.061
0.062
0.063
0.064
0.065
0.066
0.067
0.068
0.069
0.070
0.329
0.071
0.307
0.072
0.334
0.073
0.074
0.075
0.076
0.077
0.078
0.079
0.335
Guayami/Ngobe
Haida
Haisla
Halchidhoma
Halyikwamai
Han
Hare
Havasupai
Hawaiian
Hazda
0.301
0.080
0.081
0.082
0.083
0.084
0.085
0.086
0.087
0.343
Herero!
0.337
Hidatsa
Hispanic origin
Hoh
Hohokam
Hope
Hope-Tewa
Huchnom
Huetar
Huichol
Hupa
Inca
Ingalik
Innu
Inuit
Inupiat
Iowa
Itel’men
0.088
HIS
0.089
0.090
0.091
0.092
0.093
0.319
0.094
0.095
0.096
0.097
0.098
0.099
0.100
0.101
0.321
Jumano
Kalapuya
Kalispel
0.102
0.103
0.104
Region
California
Pacific Northwest
Southwest
Pacific Northwest
California
Southwest
Plateau
Plateau
Plateau
Great Plains
Pacific Northwest
Southwest
Pacific Northwest
Pacific Northwest
California
Pacific Northwest
Pacific Northwest
Subarctic
Great Plains
California
Great Plains
Subarctic
Pacific Northwest
Eastern Region
California
Siberia
Subarctic
Sub-Saharan
Plateau
California
Pacific Northwest
Great Basin
Great Plains
Southwest
California
Mariana Islands
(South)/Guamanian
Western Region
Pacific Northwest
Pacific Northwest
Southwest
Southwest
Subarctic
Subarctic
Southwest
Pacific Islands
Africa
South Western
Africa
Great Plains
ND
Pacific Northwest
Southwest
Southwest
Southwest
California
Quitirrisi
Southwest
California
Middle America
Subarctic
Subarctic
Arctic
Arctic
Great Plains
Kamchatka
Peninsula
Southwest
Pacific Northwest
Plateau
Country
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Panama
USA
Russia
USA
Guinea
USA
USA
USA
USA
USA
USA
USA
USA
Panama
USA/Canada
USA
USA
USA
USA
USA
USA
USA
The United
Republic of
Tanzania
Botswana
USA
USA
USA
USA
USA
USA
Costa Rica
USA
USA
USA
USA
USA
USA
USA
USA
Russia
USA
USA
USA
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 3. Continued…
Tribe
Kansa
Karankawa
Karok
Kaska
Kawaiisu
Kichai
Kiliwa
Kiowa
Kitanemuk
Klallam
Klamath
Klickitat
Kohuana
Kootenai
Koryak
Code
0.105
0.106
0.107
0.108
0.109
0.110
0.111
0.112
0.113
0.114
0.115
0.116
0.117
0.118
0.324
Region
Great Plains
Southwest
California
Subarctic
Great Basin
Great Plains
California
Great Plains
California
Pacific Northwest
Plateau
Plateau
Southwest
Plateau
Kamchatka
Peninsula
Subarctic
ND
Pacific Northwest
California
South Eastern
Coastline
South Western
Africa
Subarctic
Pacific Northwest
Pacific Northwest
Plateau
Great Plains
California
Pacific Northwest
Plateau
California
Pacific Northwest
California
Pacific Northwest
ND
Great Plains
Southwest
Polynesia
Koyukon
Kraho
Kuitsh
Kumeyaay
Kuna
0.119
0.304
0.120
0.121
0.298
Kung
0.336
Kutchin
Kwakiutl
Kwalhioqua
Lake
Lakota
Lassik
Latgawa
Lillooet
Luiseno
Lummi
Maidu
Makah
Makiritare
Mandan
Manso
Maori
0.122
0.123
0.124
0.125
0.126
0.127
0.128
0.129
0.130
0.131
0.132
0.133
0.338
0.134
0.135
0.323
Mapuche
Maricopa
Mataco
Mattole
Maya
Mayo
Mbanderu
Melanesia
0.297
0.136
0.303
0.137
0.138
0.139
0.342
0.315
Metis
Micronesia
0.140
0.316
Middle Eastern
Europeans
Mimbreno
Missouri
Miwok
Mixtec
Modoc
Mogollon
Mohave
Mono
Mountain
Muckleshoot
Nakipa
Nakota
Nanaimo
Naron
Native American
MLE
Patagonian Region
Southwest
ND
California
Middle America
Southwest
ND
South Pacific
Islanders
Subarctic
South Pacific
Islanders
Middle East
0.141
0.142
0.143
0.144
0.145
0.146
0.147
0.148
0.149
0.150
0.151
0.152
0.153
0.341
0.333
Southwest
Great Plains
California
Middle America
Plateau
Southwest
Southwest
California
Subarctic
Pacific Northwest
California
Great Plains
Pacific Northwest
ND
ND
Navajo
0.154
Southwest
Country
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Russia
USA
Brazil
USA
USA
Panama
Namibia
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Venezuela
USA
USA
New
Zealand
Argentina
USA
Argentina
USA
USA
USA
Botswana
ND
USA
ND
Europe
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Botswana
North/South
America
USA
Tribe
Nez Perce
Nguni
Niokolo Mandenka
Niska
Nisqually
Nomlaki
Nongatl
Nooksack
Nootka
Nuu-chah-nulth
Ojibwa/Chippewa
Code
0.155
0.310
0.327
0.156
0.157
0.158
0.159
0.160
0.161
0.328
0.305
Okanagan
Olmec
Omaha
Oneota
0.162
0.163
0.164
0.331
Osage
Oto
Paipai
Paiute
Palouse
Papua
0.165
0.166
0.167
0.168
0.169
0.339
Patwin
Pawnee
Piegan
Pima
Piro
Pojoaque
Polynesia
0.170
0.171
0.172
0.173
0.174
0.175
0.317
Pomo
0.176
Ponca
0.177
Pueblo, Acoma
0.179
Pueblo, Cochiti
0.180
Pueblo, Isleta
0.181
Pueblo, Jemez
0.182
Pueblo, Keres
0.183
Pueblo, Laguna
0.184
Pueblo, Nambe
0.185
Pueblo, Not Defined 0.178
Pueblo, Pecos
0.186
Pueblo, Picuris
0.187
Pueblo, San Felipe 0.188
Pueblo, San
0.189
Ildefonso
Pueblo, San Juan
0.190
Pueblo, Sandia
0.191
Pueblo, Santa Ana 0.192
Pueblo, Santa Clara 0.193
Pueblo, Santo
0.194
Domingo
Pueblo, Taos
0.195
Pueblo, Tesugue
0.196
Pueblo, Tewa
0.197
Pueblo, Tompiro
0.198
Pueblo, Towa
0.199
Pueblo, Ysleta del 0.200
Sur
Pueblo, Zia
0.201
Puyallup
0.202
Pygmy
0.320
Quapaw
Quiche
0.203
0.296
Quileute
Quinault
Salinan
0.204
0.205
0.206
Region
Plateau
ND
Eastern Senegal
Pacific Northwest
Pacific Northwest
California
California
Pacific Northwest
Pacific Northwest
Pacific Northwest
North Central States
(MN, ND)
Plateau
Middle America
Great Plains
Illinois: Norris
Farms cemetery
Great Plains
Great Plains
California
Great Basin
Plateau
ND
Country
USA
South Africa
Senegal
USA
USA
USA
USA
USA
USA
USA/Canada
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Papua New
Guinea
USA
USA
USA
USA
USA
USA
ND
California
Great Plains
Great Plains
Southwest
Southwest
Southwest
South Pacific
Islanders
California
Great Plains
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Southwest
Southwest
Southwest
Southwest
Southwest
USA
USA
USA
USA
USA
Southwest
Southwest
Southwest
Southwest
Southwest
Southwest
USA
USA
USA
USA
USA
USA
Southwest
Pacific Northwest
Central Africa
USA
USA
Central
African
Republic
and DR
Congo
USA
Guatemala
Great Plains
Santa Cruz de
Quiche
Pacific Northwest
Pacific Northwest
California
USA
USA
USA
323
Miller and Budowle: A Compendium of mtDNA Control Region
Croat Med J 2001;42:315-327
Table 3. Continued…
Tribe
Salish
Samish
San
Sanpoil
Sarsi
Sauk-Suiattle
Sechelt
Sekani
Seri
Serrano
Shasta
Shoalwater
Shoshone
Shuswap
Siletz
Sinkyone
Siuslaw
Skagit
Skokomish
Slavey
Snohomish
Snoqualmie
Sobaipuri
Songhees
Sotho-Tswana
Spokan
Squamish
Squaxin Island
Steilacoom
Stillaguamish
Suma
Suquamish
Swinomish
Tagish
Tahltan
Takelma
Tanaina
Tano
Tarahumara
Tataviam
Tawakoni
Tenana
Tenino
Tepehuan
Thompson
Tibetan
Tillamook
Tiwa
Tlingit
Tohono O’odham
a
Code
0.207
0.208
0.311
0.209
0.210
0.211
0.212
0.213
0.214
0.215
0.216
0.217
0.218
0.219
0.220
0.221
0.222
0.223
0.224
0.225
0.226
0.227
0.228
0.229
0.312
0.230
0.231
0.232
0.233
0.234
0.235
0.236
0.237
0.238
0.239
0.240
0.241
0.242
0.243
0.244
0.245
0.246
0.247
0.248
0.249
0.306
0.250
0.251
0.252
0.253
Region
Pacific Northwest
Pacific Northwest
ND
Plateau
Great Plains
Pacific Northwest
Pacific Northwest
Subarctic
Southwest
California
California
Pacific Northwest
Great Basin
Plateau
Pacific Northwest
California
Pacific Northwest
Pacific Northwest
Pacific Northwest
Subarctic
Pacific Northwest
Pacific Northwest
Southwest
Pacific Northwest
ND
Plateau
Pacific Northwest
Pacific Northwest
Pacific Northwest
Pacific Northwest
Southwest
Pacific Northwest
Pacific Northwest
Subarctic
Subarctic
Pacific Northwest
Subarctic
Southwest
Southwest
California
Great Plains
Subarctic
Plateau
Southwest
Plateau
Tibet
Pacific Northwest
Southwest
Pacific Northwest
Southwest
Country
USA
USA
South Africa
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
South Africa
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA/Mexico
USA
USA
USA
USA
USA
USA
China
USA
USA
USA
USA
Tribe
Tolowa
Toltec
Tristan da Cunha
Code
0.254
0.255
0.340
Tsetsaut
Tsimshian
Tsonga
Tubatulabal
Tutchone
Tututni
Twana
Umatilla
Umpqua, Cow
Creek Band
Umpqua, ND
Umpqua, Upper
Unangan
Unknown
USA, Guam
Ute
Waco
Wailaki
Walapai
Walla Walla
Wappo
Wasco
Washoe
Wenatchee
Whilkut
Wichita
Windover
0.256
0.257
0.313
0.258
0.259
0.260
0.261
0.262
0.264
Wintun
Wishram
Wiyot
Wounan
Yahi
Yakima
Yana
Yaqui
Yaquina
Yellowknife
Yokuts
Yoruban
Yuki
Yuma
Yup’ik
Yurok
Zapotec
Zuni
0.278
0.279
0.280
0.330
0.281
0.282
0.283
0.284
0.285
0.286
0.287
0.007
0.288
0.289
0.290
0.291
0.292
0.293
0.263
0.265
0.266
UNK
GUA
0.267
0.268
0.269
0.270
0.271
0.272
0.273
0.274
0.275
0.276
0.277
0.295
Region
California
Middle America
Southern Atlantic
Ocean
Subarctic
Pacific Northwest
ND
California
Subarctic
Pacific Northwest
Pacific Northwest
Plateau
Pacific Northwest
Pacific Northwest
Pacific Northwest
Arctic
ND
Great Basin
Great Plains
California
Southwest
Plateau
California
Pacific Northwest
Great Basin
Plateau
California
Great Plains
Windover ancient
arch. site
California
Plateau
California
Eastern Region
California
Plateau
California
Southwest
Pacific Northwest
Subarctic
California
ND
California
Southwest
Arctic
California
Middle America
Southwest
Country
USA
USA
Great Britain
USA
USA
South Africa
USA
USA
USA
USA
USA
USA
USA
USA
USA
ND
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
USA
Panama
USA
USA
USA
USA
USA
USA
USA
Nigeria
USA
USA
USA
USA
USA
USA
ND – not determined/defined.
Table 4. The nucleotide positions listed by Barbujani et al (68) are listed together with the standardized nps to which they most
likely correspond
Sequence/number
Sequence 13a
Barbujani
Number
Our numberb
(based on CRS)
Sequence 13
a
G
G
150
C
C
–
158 190
205
206
255
263 295
309.1 309.2
G
G
C
C
–
Nucleotide/position
C
C
c
324
C
208C 209c
213
219
223
310
315.1 315.1 315.2 315
321
325
T
C
The haploype of sample 13 is listed in Figure 2 of Barabujani et al (68).
Our assignment of np is that of Anderson et al (82).
If Barbujani et al (68) 208 np is T or blank, then it is replaced with 315.1C.
d
If Barbujani et al (68) np 208 is C, then it is replaced with 315.2C.
b
T
208
C
209d
T
C
T
Reported mitotype
47C 94C 145C 158G 205C
208C 209C 213T 246T
152C 199C 250C 263G
309.1C 315T 315.1C 315.2C
348T
Miller and Budowle: A Compendium of mtDNA Control Region
ture contributions a standardized format should be
developed that is consistent with the structure in the
Compendium. Finally, the original concordance
search format has been replaced by the FBI-developed searching program “MitoSearch,” and searching
algorithms are included in Combined DNA Index
System to support the Missing Persons and Forensic
Indices. The database will be made available via Forensic Science Communications (http://www.fbi.gov).
The data contained in this Compendium cannot represent all data currently available; mtDNA population
data are being developed and disseminated continuously. In fact, by the time this Compendium is published, the web-based data will be augmented compared with the data included in this Compendium.
Furthermore, in an attempt to remain current and correct, we invite submissions of new sequence data for
inclusion in future editions and welcome comments
from users. We also especially welcome corrections
in the public literature data that may be due to
transcriptional errors on the authors’ part, incorrect
conversion of nomenclature on our part, or errors on
our part due to manual transcription of the data into
the Compendium. Updates to the Compendium will
be made when sufficient data become available.
Finally, it is our intention to archive whole mtDNA
genome information when it becomes available.
Croat Med J 2001;42:315-327
9
10
11
12
13
14
15
16
Acknowledgments
We would like to express appreciation to Keith L. Monson,
Melissa Smrz, Wende Evans, and Deanna Pope for their contributions and support.
This is publication number 01-01 of the Laboratory Division of the Federal Bureau of Investigation. Names of commercial
manufacturers are provided for identification only, and inclusion
does not imply endorsement by the Federal Bureau of Investigation.
References
1 Holland MM, Fisher DL, Mitchell LG, Rodriquez WC,
Canik JJ, Meril CR, et al. Mitochondrial DNA sequence
analysis of human skeletal remains: identification of remains from the Vietnam war. J Forensic Sci 1993;38:
542-53.
2 Wallace DC. Mitochondrial DNA in aging and disease.
Scientific American 1997 August; p. 40-7.
3 Budowle B, Wilson MR, DiZinno JA, Stauffer C, Fasano
MA, Holland MM, et al. Mitochondrial DNA regions
HVI and HVII population data. Forensic Sci Int 1999;
103:23-35.
4 Stoneking M. Mitochondrial DNA and human evolution. J Bioenerg Biomembr 1994;26:251-9.
5 Cann R. Human dispersal and diversity. Trends in Evolutionary Ecology 1993;8:27-30.
6 Miller KWP, Dawson JL, Hagelberg E. A concordance
of nucleotide substitutions in the first and second
hypervariable segments of the human mtDNA control
region. Int J Legal Med 1996;109:107-13.
7 Wilson MR, Stoneking M, Holland MM, DiZinno JA.
Guidelines for the use of mitochondrial DNA sequencing in forensic science. Crime Laboratory Digest 1993;
20:68-77.
8 Wilson MR, DiZinno JA, Polanskey D, Replogle J,
Budowle B. Validation of mitochondrial DNA sequenc-
17
18
19
20
21
22
23
24
ing for forensic casework analysis. Int J Legal Med
1995;108:68-74.
National Research Council. NRC Report II: The evaluation of forensic evidence. Washington (DC): National
Academy Press; 1996.
Corte-Real HB, Macaulay VA, Richards MB, Hariti G,
Issad MS, Cabon-Thomsen A, et al. Genetic diversity in
the Iberian Peninsula determined from mitochondrial
sequence analysis. Ann Hum Genet 1996;60:331-50.
Lum JK, Rickards O, Ching C, Cann RL. Polynesian mitochondrial DNAs reveal three deep maternal lineage
clusters. Hum Biol 1994;66:567-90.
Vigilant L, Stoneking M, Harpending H, Hawkes K, Wilson AC. African populations and the evolution of human
mitochondrial DNA. Science 1991;253:1503-7.
Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley
AE, Krakowiak PA, et al. Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am J Hum Genet 1995;57:523-38.
Vigilant L, Pennington R, Harpending H, Kocher TD,
Wilson AC. Mitochondrial DNA sequences in single
hairs from a southern African population. Proc Natl
Acad Sci U S A 1989;86:9350-4.
Horai S, Hayasaka K. Intraspecific nucleotide sequence
differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet 1990;46:828-42.
Graven L, Passarino G, Semino O, Boursot P,
Santachiara-Benerecetti S, Langanzy A, et al. Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of
a large Senegalese Mandenka sample. Mol Biol Evol
1995;12:334-45.
Pääbo S. Ancient DNA: extraction, characterization,
molecular cloning, and enzymatic amplification. Proc
Natl Acad Sci U S A 1989;86:1939-43.
Mateu E, Comas D, Calafell F, Perez-Lezaun A, Abade
A, Bertranpetit J. A tale of two islands: population history and mtDNA sequence variation of Bioko and Sao
Tome, Gulf of Guinea. Am J Hum Genet 1997;61:
507-18.
Pinto F, Gonzalez AM, Hernandez M, Larruga JM,
Cabrera VM. Genetic relationship between the Canary
Islanders and their African and Spanish ancestors inferred from mtDNA sequences. Ann Hum Genet 1996;
60:321-30.
Soodyall H, Vigilant L, Hill AV, Stoneking M, Jenkins T.
mtDNA control-region sequence variation suggests
multiple independent origins of an Asian-specific 9-bp
deletion in sub-Saharan Africans. Am J Hum Genet
1996;58:595-608.
Hanni C, Begue A, Laudet V, Stehelin D, Brosseau T,
Amouyel P, et al. Molecular typing of neolithic human
bones. Journal of Archaeological Science 1995;22:
649-58.
Stoneking M, Hedgecock D, Higuchi RG, Vigilant L,
Erlich HA, Arnheim N, et al. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet 1991;48:370-82.
Vigilant L. Control region sequences from African populations and the evolution of human mitochondrial
DNA [dissertation]. Berkeley (CA): University of California; 1990.
Monsalve MV, Hagelberg E. Mitochondrial DNA
polymorphisms in Carib people from Belize. Proc R Soc
Lond B Biol Sci 1997;264:1217-24.
325
Miller and Budowle: A Compendium of mtDNA Control Region
25 Ward RH, Redd A, Valencia D, Fraizer B, Pääbo S. Genetic and linguistic differentiation in the Americas. Proc
Natl Acad Sci U S A 1993;90:10663-7.
26 Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB,
Cabell MF, Crawford MH, et al. mtDNA variation of Aboriginal Siberians reveals distinct genetic affinities with
Native Americans. Am J Hum Genet 1993;53:591-608.
27 Ward RH, Frazier BL, Dew-Jager K, Pääbo S. Extensive
mitochondrial diversity within a single Amerindian
tribe. Proc Natl Acad Sci U S A 1991;88:8720-4.
28 Santos M, Ward RH, Barrantes R. mtDNA variation in
the Chibcha Amerindian Huetar from Costa Rica. Hum
Biol 1994;66:963-77.
29 Boles TC, Snow CC, Stover E. Forensic DNA testing on
skeletal remains from mass graves: a pilot project in
Guatemala. J Forensic Sci 1995;40:349-55.
30 Horai S, Kondo R, Nakagawa-Hattori Y, Hayashi S,
Sonoda S, Tajima K. Peopling of the Americas, founded
by four major lineages of mitochondrial DNA. Mol Biol
Evol 1993;10:23-47.
31 Betty DJ, Chin-Atkins AN, Croft L, Sraml M, Easteal S.
Multiple independent origins of the COII/tRNALys
intergenic 9-bp mtDNA deletion in aboriginal Australians. Am J Hum Genet 1996;58:428-33.
32 Kolman CJ, Bermingham E, Cooke R, Ward RH, Arias TD,
Guionneau SF. Reduced mtDNA diversity in the Ngobe
Amerinds of Panama. Genetics 1995;140:275-83.
33 Batista O, Kolman CJ, Bermingham E. Mitochondrial
DNA diversity in the Kuna Amerinds of Panama. Hum
Mol Genet 1995;4:921-9.
34 Hagelberg E, Clegg JB. Genetic polymorphisms in prehistoric Pacific Islanders determined by analysis of ancient bone DNA. Proc R Soc Lond B Biol Sci 1993;252:
163-70.
35 Aquadro CF, Greenberg BD. Human mtDNA variation
and evolution: analysis of nucleotide sequences from
seven individuals. Genetics 1983;103:287-312.
36 Stone AC, Stoneking M. mtDNA analysis of a prehistoric Oneota population: implications for the peopling
of the New World. Am J Hum Genet 1998;62:1153-70.
37 Hauswirth WW, Dickel CD, Rowold DJ, Hauswirth
MA. Inter-and intrapopulation studies of ancient humans. Experientia 1994;50:585-91.
38 Ginther C, Corach D, Penacino GA, Rey JA, Carnese
FR, Hutz MH, et al. Genetic variation among the
Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele
frequencies of several nuclear genes. In: Pena SDJ,
Chakraborty R, Epplen JT, Jeffreys AJ, editors. DNA fingerprinting: state of the science. Basel: Birkhauser
Verlag; 1993. p. 211-9.
39 Catira-Bortolini M, Zago MA, Salzano FM, Silva-Junior
WA, Luiz Bonatto S, Da Salva MCBO, et al. Evolutionary and anthropological implications of mitochondrial
DNA variation in African Brazilian populations. Hum
Biol 1997;69:141-59.
40 Santos SE, Ribetio-dos-Santos AK, Meyer D, Zago MA.
Multiple founder haplotypes of mitochondrial DNA in
Amerindians revealed by RFLP and sequencing. Ann
Hum Genet 1996;60:305-19.
41 Ribetio-dos-Santos AK, Santos SE, Machado AL,
Guapindaia V, Zago MA. Heterogeneity of mtDNA
haplotypes in pre-Columbian natives of the Amazon
Region. Am J Phys Anthropol 1996;101:29-37.
42 Easton RD, Merriwether DA, Crews DE, Ferrell RE.
mtDNA variation in the Yanomami: evidence for addi-
326
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
Croat Med J 2001;42:315-327
tional New World founding lineages. Am J Hum Genet
1996;59:213-25.
Monsalve MV, Cardenas F, Guhl F, Delaney AD,
Devine DV. Phylogenetic analysis of mtDNA lineages
in South American mummies. Ann Hum Genet 1996;
60:293-303.
Roberts DF, Soodyall H. Population ancestry on Tristan
da Cunha: the evidence of the individual. In: Mascie-Taylor CGN, Boyce AJ, editors. Molecular biology and human diversity. Cambridge: Cambridge University Press;
1996. p. 196-204.
Sykes B, Leiboff A, Low-Beer J, Tetzner S, Richards M.
The origins of the Polynesians: an interpretation from
mitochondrial lineage analysis. Am J Hum Genet 1995;
57:1463-75.
Horai S, Murayama K, Hayasaka K, Matsubayashi S,
Hattori Y, Fucharoen G, et al. mtDNA polymorphism in
East Asian populations, with special reference to the
peopling of Japan. Am J Hum Genet 1996;59: 579-90.
Melton T, Clifford S, Martinson J, Batzer M, Stoneking M.
Genetic evidence for the proto-Austronesian homeland
in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes. Am J Hum Genet 1998;63:204-12.
Mountain JL, Herbert JM, Bhattacharyya S, Underhill PA,
Ottolenghi C, Gadgil M, et al. Demographic history of
India and mtDNA-sequence diversity. Am J Hum Genet
1995;56:979-92.
Redd AJ, Takezaki N, Sherry ST, McGarvey ST, Sofro
ASM, Stoneking M. Evolutionary history of the
COII/tRNALys intergenic 9 base pair deletion in human
mitochondrial DNAs from the Pacific. Mol Biol Evol
1995;12:604-15.
Seo Y, Stradmann-Bellinghausen B, Rittner C, Takahama
K, Schneider PM. Sequence polymorphism of mitochondrial DNA control region in Japanese. Forensic Sci
Int 1998;97:155-64.
Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E,
Martinez-Arias R, et al. Trading genes along the Silk
Road: mtDNA sequences and the origin of Central Asian
populations. Am J Hum Genet 1998;63:1824-38.
Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV,
Larsen M, et al. Asian affinities and continental radiation of the four founding native American mtDNAs. Am
J Hum Genet 1993;53:563-90.
Kolman CJ, Sambuughin N, Bermingham E. Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 1996;142:1321-34.
Murray-McIntosh R, Scrimshaw BJ, Hatfield PJ, Penny
D. Testing migration patterns and estimating founding
population size in Polynesia by using human mtDNA
sequences. Proc Natl Acad Sci U S A 1998;95:9047-52.
van Holst Pellekaan S, Frommer S, Sned JA, Boettcher
B. Mitochondrial control-region sequence variation in
Aboriginal Australians. Am J Hum Genet 1998;62:
435-49.
Handt O, Richards M, Trommsdorff M, Kilger L,
Simanannen J, Georgiev O, et al. Molecular genetic analyses of the Tyrolean Ice Man. Science 1994;264:1775-8.
Parson W, Parsons TJ, Scheithauer R, Holland MM.
Population data for 101 Austrian Caucasian mitochondrial DNA D-loop sequences: application of mtDNA sequence analysis to a forensic case. Int J Legal Med
1998;111:124-32.
Calafell F, Underhill P, Tolun A, Angelcheva D,
Kalaydjleva Z. From Asia to Europe: mitochondrial
Miller and Budowle: A Compendium of mtDNA Control Region
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
DNA sequence variability in Bulgarians and Turks. Ann
Hum Genet 1996;60:35-49.
Miller KWP. Molecular genetic analysis of human populations in Orkney and the North Atlantic Region [dissertation]. Cambridge (UK): University of Cambridge; 1996.
Richards M, Corte-Real H, Forster P, Macaulay V,
Wilkinson-Herbots H, Demaine A, et al. Paleolithic and
Neolithic lineages in the European mitochondrial gene
pool. Am J Hum Genet 1996;59:185-203.
Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen
P, Savontaus M-L, et al. Genes and languages in Europe:
an analysis of mitochondrial lineages. Genome Research 1995;5:42-52.
Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P,
Peltonen L, Savontaus ML. The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis
of nuclear DNA and mtDNA. Am J Hum Genet
1996;58:1309-22.
Lutz S, Weisser H-J, Heizmann J, Pollak S. Location and
frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int J Legal Med
1998;111:67-77.
Baasner A, Schafer C, Junge A, Madea B. Polymorphic
sites in human mtDNA control region sequences: population data and maternal inheritance. Forensic Sci Int
1998;98:169-78.
Pfeiffer H, Brinkmann B, Huhne J, Rolf B, Morris AA,
Steighner R, et al. Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography.
Int J Legal Med 1999;112:291-8.
Krings M, Stone A, Schmitz RW, Krainitzki H,
Stoneking M, Pääbo S. Neandertal DNA sequences and
the origin of modern humans. Cell 1997;90: 19-30.
Di Rienzo A, Wilson AC. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl
Acad Sci U S A 1991;88:1597-601.
Barbujani G, Stenico M, Excoffier L, Nigro L. Mitochondrial DNA sequence variation across linguistic and geographic boundaries in Italy. Hum Biol 1996; 68:201-15.
Stenico ML, Nigro L, Bertorelle G, Calafell F, Capitano
M, Corrain C, et al. High mitochondrial DNA sequence
diversity in linguistic isolates of the Alps. Am J Hum
Genet 1996;59:1363-75.
Francalacci P, Bertranpetit J, Calafell F, Underhill PA.
Sequence diversity of the control region of mtDNA in
Tuscany and its implication for the peopling of Europe.
Am J Phys Anthropol 1996;100:443-60.
Dupuy BM, Olaisen B. mtDNA sequences in the Norwegian Saami and main populations. In: Carracedo A,
Brinkmann B, Bär W, editors. Advances in forensic
haemogenetics: 6. Berlin: Springer-Verlag; 1996. p. 23-5.
Hopwood A, Mannucci A, Sullivan K. DNA typing from
human faeces. Int J Legal Med 1996;108:237-43.
Schurr TG, Sukernik RI, Starikovskaya YB, Wallace DC.
Mitochondrial DNA variation in Koryaks and Itel’men:
population replacement in the Okhotsk Sea-Bering Sea
region during the Neolithic. Am J Phys Anthropol 1999;
108:1-39.
Gill P, Ivanov PL, Kimpton C, Piercy R, Benson N, Tully
G, et al. Identification of the remains of the Romanov
family by DNA analysis. Nat Genet 1994;6:130-5.
Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P,
Comas D. Human mitochondrial DNA variation and
the origin of the Basques. Ann Hum Genet 1995;59:
63-81.
Croat Med J 2001;42:315-327
76 Alonso A, Martin P, Albarran C, Garcia O, Sancho M.
Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase
chain reaction and single strand conformation analysis in
mutation detection enhancement gels. Electrophoresis
1996;17:1299-301.
77 Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo
A. mtDNA analysis of the Galician population: a genetic
edge of European variation. Eur J Hum Genet
1998;6:365-75.
78 Martinez-Jarreta B, Prades A, Calafell F, Budowle B. Mitochondrial DNA HVI and HVII variation in a
North-East Spanish population. J Forensic Sci 2000;
45:1162-3.
79 Dimo-Simonin N, Grange F, Taroni F, BrandtCasadevall C, Mangin P. Forensic evaluation of mtDNA
in a population from Southwest Switzerland. Int J Legal
Med 2000;113:89-97.
80 Pult I, Sajantila A, Simonainen J, Georgiev O, Schaffner
W, Pääbo S. Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biological Chemistry Hoppe-Seyler 1994;375:
837-40.
81 Comas D, Calafell F, Mateu E, Perez-Lezaun A,
Bertranpetit J. Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations. Mol Biol Evol 1996;13:1067-77.
82 Anderson S, Bankier AT, Barrell BG, de Bruijin MHL,
Coulson AR, Drouin J, et al. Sequence and organization
of the human mitochondrial genomes. Nature 1981;
290:457-65.
83 Piercy R, Sullivan KM, Benson N, Gill P. The application of mitochondrial DNA typing to the study of white
Caucasian genetic identification. Int J Legal Med
1993;106:85-90.
84 Thomas MG, Cook CE, Miller KW, Waring MJ,
Hagelberg E. Molecular instability in the COII- tRNALys
intergenic region of the human mitochondrial genome:
multiple origins of the 9-bp deletion and heteroplasmy
for expanded repeats. Philos Trans R Soc Lond B Biol
Sci 1998;353:955-65.
85 Hagelberg E, Goldman N, Lio P, Whelan S,
Schiefenhovel W, Glegg JB, et al. Evidence for mitochondrial DNA recombination in a human population
of island Melanesia. Proc R Soc Lond B Biol Sci 1999;
266:485-92.
86 United Nations. Terminology Bulletin No.347/Rev.1:
Country Names. New York (NY): United Nations Office
of Conference and Support Services; 1997. p. 1-50.
87 Shields GF, Schmiechen AM, Frazier BL, Redd A,
Voevoda MI, Reed JK, et al. mtDNA sequences suggest
a recent evolutionary divergence for Beringian and
northern North American populations. Am J Hum
Genet 1993;53:549-62.
Received: April 9, 2001
Accepted: April 18, 2001.
Correspondence to:
Bruce Budowle
Federal Bureau of Investigation
935 Pennsylvania Avenue N.W.
Washington, D.C. 20535, USA
[email protected]
327