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Polymorphisms of DNA repair genes: ERCC1 G19007A and ERCC2/XPD C22541A in a northeastern Chinese population.

Abstract：

:DNA repair systems are responsible for maintaining the integrity of the genome and have a critical role in protecting against mutations that can lead to cancer. DNA repair gene products of ERCC1 and ERCC2/XPD are involved in the nucleotide excision repair pathway. The allele frequencies of the polymorphisms ERCC1 G19007A and ERCC2/XPD C22541A were examined in a northeastern Chinese population. The allele frequencies were 0.21 (A) and 0.79 (G) for ERCC1 G19007A and 0.49 (A) and 0.51 (C) for ERCC2/XPD C22541A. Comparison with average frequencies from previously reported Caucasian studies demonstrated that the A-allele frequency of ERCC1 G19007A was much lower in the northeastern Chinese population, indicating a remarkable ethnic difference (chi((1)) (2) = 160.09, p < 0.001), and that allele frequencies of ERCC2/XPD C22541A showed marginal racial differences (chi((1)) (2) = 4.36, p = 0.04). We have previously reported that both homozygote carriers of the A-allele as well as homozygous carriers of a high-risk haplotype (which includes the AA genotype in ERCC1 G19007A) were at increased risk of basal cell carcinoma, breast cancer, and lung cancer among Caucasians. The low A-allele frequency of ERCC1 G19007A in the Chinese population may suggest that the genetic contribution to cancer risk differs substantially between ethnic groups.

journal_name

Biochem Genet

journal_title

Biochemical genetics

authors

Yin J,Li J,Vogel U,Wang H

doi

10.1007/s10528-005-8170-3

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

543-8

issue

9-10

eissn

0006-2928

issn

1573-4927

journal_volume

43

pub_type

杂志文章

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