Sequence Variability of a Human Pseudogene

Table 1.

psGBA Haplotypes and Their Frequencies in 100 Human Chromosomes

Position 184 234 308-10 2253 2266 2723 3617 3968 4008 4020 4274 4291 4419 4614 4635 4938 5001 5061 GBA
Haplotype t a ctc t g g g c c c c g t c c t t c Freq
3 . . . . . . . . . . . . . . . . . . 29 7−/7+
8 . . . . . . . . . . . . . . . c . . 5 4+
4 . . . . . . . . . . . . c . . . . . 4 2+
20 g g . . . . . . . . . . . . . . . . 2
2 . . . . . . . . . . . . . . t . . . 1 1+
21 . . . . . . . . . . . . . . . . c . 1
23 . . . . . . a t . . . . . . . . . . 1
29 . . . . . . a . . . . . . . . . . . 1
30 . . . . . . . . . . . . . . . . . t 1 1+
1 . . . . . . . . . . . a . . . . . . 1 1−
5 . . . . a . . . . . . . . . . . . . 1 1−
6 . . . . . . . . . . . . . g . . . . 1
7 . . . c . . . . . . . . . g . . . . 1 1+
25 . . . c . . . . . . . . . . . . . . 3 2+
17 . . . c a . . . . t . . . . . c . . 23 12−
19 . . . c a . . . . t . a . . . c . . 4 3−
26 . . . c . . . . . t . . . . . c . . 3 2−
15 . . . c a . . . . . . a . . . c . . 1
13 . . . c a . . . . . . . . . . c . . 3 1−/2+
16 . . − c a . . . . . . . . . . c . . 1
22 . . . c a . . . . . . . . . . . . . 1
24 . . . c . . . t . . t . . . . c . . 1 1+
27 . . . c . a . . . . . . . . . c . . 1
10 . . . c . . . . . . . . . . . c . . 9 1−/5+
11 . . . c . . . . t . . . . . . c . . 1
Chimpanzee . . . c . . . t . . . a c g . c . . 4
Gorilla . . . c . . . t a . . a c g/a . c . . 3/1
HumanGBA . . ttc . a . . t a t . g/a c g . . . .

  • The states in chimpanzee, gorilla, and the human GBAgene (GenBank J03059) are shown for the human psGBA variable sites. Polymorphisms caused by a CpG dinucleotide are shown in bold. The nomenclature for the haplotypes is arbitrary. The association between GBA and psGBA haplotypes could be resolved for 54 of 100 chromosomes, and is indicated in theGBA column (the number indicates number of chromosomes).

  • ↵Freq, haplotypic frequency.

  • ↵Of the four gorilla alleles analyzed, three had a G in position 4614 and one presented an A.

This Article

  1. Published in Advance May 8, 2001, doi: 10.1101/gr.167701 Genome Res. 11: 1071-1085

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