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Polymorphic Variation in Double Strand Break Repair Gene in Indian Population: A Comparative Approach with Worldwide

Raju Kumar Mandal1, Rama Devi Mittal1

  • 1Department of Urology and Renal Transplantation, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh 226014 India.

Indian Journal of Clinical Biochemistry : IJCB
|April 14, 2018
PubMed
Summary

Genetic variations in DNA repair genes XRCC3 and XRCC7 show unique patterns in North India. These findings may aid in identifying individuals at higher risk for cancer due to environmental exposures.

Keywords:
DNA repair genesEthnic groupNorth IndiaPolymorphism

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Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • DNA repair capacity is crucial for cellular homeostasis and genome stability.
  • Genetic polymorphisms in DNA repair genes can influence cancer risk.
  • The double-strand break repair pathway is vital for maintaining genomic integrity.

Purpose of the Study:

  • To determine the distribution of XRCC3 Exon 7 (C18067T, rs861539) and XRCC7 Intron 8 (G6721T, rs7003908) gene polymorphisms in a North Indian population.
  • To compare these allelic frequencies with global populations.
  • To assess the potential of these polymorphisms in cancer risk assessment and high-risk screening.

Main Methods:

  • Genotyping was performed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
  • The study included 224 normal healthy individuals of North Indian ethnicity.
  • Allelic frequencies of wild-type and variant alleles for XRCC3 and XRCC7 were calculated.

Main Results:

  • Wild-type allele frequencies were 79% (C) for XRCC3 and 57% (G) for XRCC7.
  • Variant allele frequencies were 21% (T) for XRCC3 and 43% (T) for XRCC7.
  • Significant differences in allele frequencies were observed when compared to other ethnic populations globally.

Conclusions:

  • The frequency of XRCC3 and XRCC7 gene polymorphisms exhibits a distinctive pattern in the North Indian population, likely due to ethnic variations.
  • These findings can contribute to personalized cancer prevention strategies by identifying individuals with potentially reduced DNA repair capacity.
  • Understanding ethnic variations in DNA repair genes is important for targeted screening of populations exposed to environmental carcinogens.