FIGURE 18-14 Nudeotide variation for 5102 bp of the G6PD gene for a woridwide sample of 47 men. Only the 18 variable sites are shown. The functional allele ddass (A,A", or B) is shown for each sequence. SNP2 is a nonsynonymous SNP that causes a valine-to- methionine change that underies differences in enzyme activity associated with the A allele. SNP3 is a nonsynonymous SNP that causes an aspartic-acid-to-asparagine amino acid change. [Data from M.A. Saunders at al, Ganetics 162, 2002, 1849-1861.| 18.4 Genetic Variation and Its Measurement 685 Nucleotide variation at the G6PD gene in humans Origin SNP Individual Allele 1 2 3 6 7 8 9 10 11 12 13 14 15 16 17 18 AGAC CG C C CcC G GCT CACH T T • T.T Southem African GAG G GAG G GAG. G. . T .T. GAG. G. . T .T. . GAG. G. T . T A- G 1 .. C . G. 1 . C. G 1 .. C G 1 .C. G 1 •C. G 2 . C G. 2 . C. G. 3 CTG. 4 •CT G . 4 .. CT G. 5 . CTG. 6 A.C G7 • TC. G. 8 TC. G. • TC. G 8 •TC. G. • TC. G. Central African Central African A- A- 4. Atrican American A- 5 Atrican American A- 6 Central African Central African A- GAG.G • T•I G.G.. . . .. T G.G . A+ Central African Central African A+ .T.. 10 Southerm African A . 11 Southern African 12 Southen African 13 Southerm African 14 Southen African 15 Central African 16 European European European Southwest Asian 17 18 19 20 East Asian •CG 3 C.G. 9 .. 10 .. 10 .. 10 . 10 . 10 • 10 . 10 • 10 . 10 . 10 . 10 21 22 23 Native American Southern African Native American 24 Native American 25 Native American 26 Native American 27 Native American 28 Native American 29 30 31 Native American Native American Native American 32 European European European European European European Southwest Asian 33 • 10 10 34 35 • 10 . 10 . 10 . 10 . 10 • 10 36 37 38 30 East Asian 40 East Asian 41 East Asian • 10 42 East Asian • 10 43 East Asian • 10 44 East Asian • 10 45 East Asian 10 46 Pacific Islander • 11 47 East Asian T 12 Haplotype

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter4: Pedigree Analysis In Human Genetics

Section: Chapter Questions

Problem 27QP: Variations in Phenotype Expression A genetic disorder characterized by falling asleep in genetics...

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Question

. Figure 18-14 presents haplotype data for the G6PD gene
in a worldwide sample of people.
a. Draw a haplotype network for these haplotypes.
Label the branches on which each SNP occurs.
b. Which of the haplotypes has the most connections
to other haplotypes?
c. On what continents is this haplotype found?
d. Counting the number of SNPs along the branches
of your network, how many differences are there
between haplotypes 1 and 12?

FIGURE 18-14 Nudeotide variation for 5102 bp of the G6PD gene for a woridwide
sample of 47 men. Only the 18 variable sites are shown. The functional allele ddass (A,A",
or B) is shown for each sequence. SNP2 is a nonsynonymous SNP that causes a valine-to-
methionine change that underies differences in enzyme activity associated with the
A allele. SNP3 is a nonsynonymous SNP that causes an aspartic-acid-to-asparagine
amino acid change. [Data from M.A. Saunders at al, Ganetics 162, 2002, 1849-1861.|
18.4 Genetic Variation and Its Measurement
685
Nucleotide variation at the G6PD gene in humans
Origin
SNP
Individual
Allele
1 2 3
6 7 8 9 10 11 12 13 14 15 16 17 18
AGAC CG C C CcC G GCT
CACH
T T
• T.T
Southem African
GAG G
GAG G
GAG. G. . T .T.
GAG. G. . T .T. .
GAG. G. T . T
A-
G 1
.. C . G. 1
. C. G 1
.. C G 1
.C. G 1
•C. G 2
. C G. 2
. C. G. 3
CTG. 4
•CT G . 4
.. CT G. 5
. CTG. 6
A.C G7
• TC. G. 8
TC. G.
• TC. G 8
•TC. G.
• TC. G.
Central African
Central African
A-
A-
4.
Atrican American
A-
5
Atrican American
A-
6
Central African
Central African
A-
GAG.G • T•I
G.G.. . . .. T
G.G .
A+
Central African
Central African
A+
.T..
10
Southerm African
A .
11
Southern African
12
Southen African
13
Southerm African
14
Southen African
15
Central African
16
European
European
European
Southwest Asian
17
18
19
20
East Asian
•CG 3
C.G. 9
.. 10
.. 10
.. 10
. 10
. 10
• 10
. 10
• 10
. 10
. 10
. 10
21
22
23
Native American
Southern African
Native American
24
Native American
25
Native American
26
Native American
27
Native American
28
Native American
29
30
31
Native American
Native American
Native American
32
European
European
European
European
European
European
Southwest Asian
33
• 10
10
34
35
• 10
. 10
. 10
. 10
. 10
• 10
36
37
38
30
East Asian
40
East Asian
41
East Asian
• 10
42
East Asian
• 10
43
East Asian
• 10
44
East Asian
• 10
45
East Asian
10
46
Pacific Islander
• 11
47
East Asian
T 12
Haplotype

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