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. 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