Allele and Genotype Distributions of DNA Repair Gene Polymorphisms in South Indian Healthy Population | Zendy

Katiboina Srinivasa Rao | Zendy; Abialbon Paul | Zendy; Annan Sudarsan Arun Kumar | Zendy; Gurusamy Umamaheswaran | Zendy; Biswajit Dubashi | Zendy; Gunaseelan Karunanithi | Zendy; Steven Aibor Dkhar | Zendy

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Allele and Genotype Distributions of DNA Repair Gene Polymorphisms in South Indian Healthy Population

Author(s) -

Katiboina Srinivasa Rao,

Abialbon Paul,

Annan Sudarsan Arun Kumar,

Gurusamy Umamaheswaran,

Biswajit Dubashi,

Gunaseelan Karunanithi,

Steven Aibor Dkhar

Publication year - 2014

Publication title -

biomarkers in cancer

Language(s) - English

Resource type - Journals

ISSN - 1179-299X

DOI - 10.4137/bic.s19681

Subject(s) - xeroderma pigmentosum , international hapmap project , dna repair , genetics , biology , nucleotide excision repair , genotyping , genotype , minor allele frequency , xrcc1 , allele , ercc2 , population , gene , allele frequency , single nucleotide polymorphism , medicine , environmental health

Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy population and compare with HapMap populations. Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established. The minor allele frequency of Xeroderma pigmentosum group A (XPA) G23A, Excision repair cross-complementing 2 (ERCC2)/Xeroderma pigmentosum group D (XPD) Lys751Gln, Xeroderma pigmentosum group G (XPG) His46His, XPG Asp1104His, and X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphisms were 49.2%, 36.3%, 48.0%, 23.0%, and 34.0% respectively. Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations. The present work forms the groundwork for cancer association studies and biomarker identification for treatment response and prognosis.

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