scholarly journals Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

2005 ◽  
Vol 27 (1) ◽  
pp. 84-94 ◽  
Author(s):  
Sikandar G. Khan ◽  
Kyu-Seon Oh ◽  
Tala Shahlavi ◽  
Takahiro Ueda ◽  
David B. Busch ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Mrna Levels ◽  
Repair Gene ◽  
Clinically Normal ◽  
Dna Repair Gene ◽  
Gene Mrna

scholarly journals RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.

1992 ◽  
Vol 89 (23) ◽  
pp. 11416-11420 ◽  
Author(s):  
E. Park ◽  
S. N. Guzder ◽  
M. H. Koken ◽  
I. Jaspers-Dekker ◽  
G. Weeda ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Group B ◽  
Yeast Homolog

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

2014 ◽  
Vol 6 ◽  
pp. BIC.S19681 ◽  
Author(s):  
Katiboina Srinivasa Rao ◽  
Abialbon Paul ◽  
Annan Sudarsan Arun Kumar ◽  
Gurusamy Umamaheswaran ◽  
Biswajit Dubashi ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Association Studies ◽  
Healthy Population ◽  
Repair Gene ◽  
South Indian ◽  
Dna Repair Gene ◽  
Genes Encoding ◽  
Hapmap Populations

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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