Southern blot analysis of the X-linked red-green gene locus. (A) Partial restriction maps of the red and green pigment genes. E, EcoRl; B, BamHl; R, Rsal.
Open boxes denote the six exons. The restriction fragments A–D used in distinguishing red from green-specific sequences are shown below the genes.
The A–C fragments derived from the red opsin gene (Ar, Br, Cr) are longer than those derived from the green gene (Ag, Bg, Cg) due to a 1.5-kb insertion
in the first intron (wavy line). The absence of a Rsal site in the green opsin exon 5 accounts for the larger Rsal fragment of the green opsin gene (Dg).
(Adapted with permission from Nathans et al.11 ) (B) Autoradiograph of Southern blots of genomic DNA samples from males with normal and defective
color vision digested with either a combination of EcoRl and BamHl or Rsal. The EcoRl-BamHl fragments (B and C) were detected by hybridization to a
Source: Color Vision and Its Genetic Defects, The Online Metabolic and Molecular Bases of Inherited Disease
350-bp cDNA probe encompassing exon 1 and part of exon 2, whereas the D fragments were detected by a 400-bp genomic probe from the 3′ end of
Citation:
Valle gene.
D, Beaudet
AL, Vogelstein
B,Southern
Kinzler KW,
SE,selected.
Ballabio Lane
A, Gibson
Mitchell with
G. The
Online Metabolic
Molecular
11 Typical
intron 4 of the
green opsin
examples of
blotAntonarakis
patterns were
1: AnK,
individual
protanopia
who has and
a single
redBases
of
Inherited
Disease;
2014
Available
at:
http://mhmedical.com/
Accessed:
July
31,
2017
green hybrid gene with the C and D fragments of the red gene replaced by the corresponding fragments of the green pigment gene. Lane 2: A
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reserved
deuteranomalous
individual
who
has normalEducation.
red pigment
gene and
a green-red hybrid pigment gene (see diagram in part C). Lane 3: An individual with
deuteranopia who has only a normal red gene (see diagram in part C). Lane 4: A deuteranomalous individual with a gene array comprised of normal red