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Allele and genotype distributions of DNA repair gene polymorphisms in South Indian healthy population.

Rao KS, Paul A, Kumar AS, Umamaheswaran G, Dubashi B, Gunaseelan K, Dkhar SA - Biomark Cancer (2014)

Bottom Line: Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response.Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established.Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations.

View Article: PubMed Central - PubMed

Affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Allelic discrimination plot of XPG His46His (rs1047768) polymorphism.
© Copyright Policy - open-access
Related In: Results  -  Collection


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f3-bic-6-2014-029: Allelic discrimination plot of XPG His46His (rs1047768) polymorphism.


Allele and genotype distributions of DNA repair gene polymorphisms in South Indian healthy population.

Rao KS, Paul A, Kumar AS, Umamaheswaran G, Dubashi B, Gunaseelan K, Dkhar SA - Biomark Cancer (2014)

Allelic discrimination plot of XPG His46His (rs1047768) polymorphism.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4259864&req=5

f3-bic-6-2014-029: Allelic discrimination plot of XPG His46His (rs1047768) polymorphism.
Bottom Line: Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response.Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established.Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations.

View Article: PubMed Central - PubMed

Affiliation: Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus