Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays.

Nat Genet
Authors
Keywords
Abstract

Here we report the application of high-density oligonucleotide array (DNA chip)-based analysis to determine the distant history of single nucleotide polymorphisms (SNPs) in current human populations. We analysed orthologues for 397 human SNP sites (identified in CEPH pedigrees from Amish, Venezuelan and Utah populations) from 23 common chimpanzee, 19 pygmy chimpanzee and 11 gorilla genomic DNA samples. From this data we determined 214 proposed ancestral alleles (the sequence found in the last common ancestor of humans and chimpanzees). In a diverse human population set, we found that SNP alleles with higher frequencies were more likely to be ancestral than less frequently occurring alleles. There were, however, exceptions. We also found three shared human/pygmy chimpanzee polymorphisms, all involving CpG dinucleotides, and two shared human/gorilla polymorphisms, one involving a CpG dinucleotide. We demonstrate that microarray-based assays allow rapid comparative sequence analysis of intra- and interspecies genetic variation.

Year of Publication
1999
Journal
Nat Genet
Volume
22
Issue
2
Pages
164-7
Date Published
1999 Jun
ISSN
1061-4036
DOI
10.1038/9674
PubMed ID
10369258
Links
Grant list
5POLHGO1323-03 / HG / NHGRI NIH HHS / United States