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 | Freqa | |
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 | . | . | 3/1b | |
Human GBA | . | . | ttc | . | a | . | . | t | a | t | . | g/a | c | g | . | . | . | . |
The states in chimpanzee, gorilla, and the human GBA gene (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 the GBA 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.