Population-specific Variation in Haplotype Composition and Heterozygosity at the POLB Locus

Overview

Journal DNA Repair (Amst)

Publisher Elsevier

Specialties Biochemistry
Molecular Biology

Date 2009 Jan 27

PMID 19167932

Citations 15

Authors

Jennifer Yamtich

William C Speed

Eva Straka

Judith R Kidd

Joann B Sweasy

Kenneth K Kidd

Affiliations

Soon will be listed here.

Abstract

DNA polymerase beta plays a central role in base excision repair (BER), which removes large numbers of endogenous DNA lesions from each cell on a daily basis. Little is currently known about germline polymorphisms within the POLB locus, making it difficult to study the association of variants at this locus with human diseases such as cancer. Yet, approximately thirty percent of human tumor types show variants of DNA polymerase beta. We have assessed the global frequency distributions of coding and common non-coding SNPs in and flanking the POLB gene for a total of 14 sites typed in approximately 2400 individuals from anthropologically defined human populations worldwide. We have found a marked difference between haplotype frequencies in African populations and in non-African populations.

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