Population-specific variation in haplotype composition and heterozygosity at the POLB locus.

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.

• Authors: Jennifer Yamtich, William C Speed, Eva Straka, Judith R Kidd, Joann B Sweasy, Kenneth K Kidd
• Journal: DNA repair (DNA Repair (Amst)) Vol. 8 Issue 5 Pg. 579-84 (May 01 2009) ISSN: 1568-7864 [Print] Netherlands
• PMID: 19167932 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• DNA Polymerase beta

Topics

• Adult
• DNA Polymerase beta (genetics)
• Genetics, Population
• Haplotypes (genetics)
• Humans
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• Polymorphism, Single Nucleotide (genetics)
• Population Groups (genetics)