Biochemical Genetics

, Volume 43, Issue 9–10, pp 543–548 | Cite as

Polymorphisms of DNA Repair Genes: ERCC1 G19007A and ERCC2/XPD C22541A in a Northeastern Chinese Population



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 (χ(1)2 = 160.09, p < 0.001), and that allele frequencies of ERCC2/XPD C22541A showed marginal racial differences (χ(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.


DNA repair genes ERCC1 G19007A ERCC2/XPD C22541A genetic polymorphism Chinese population 


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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Jiaoyang Yin
    • 1
    • 2
  • Jicheng Li
    • 1
  • Ulla Vogel
    • 3
  • Huiwen Wang
    • 4
  1. 1.Institute of Cell BiologyZhejiang UniversityHangzhouP.R. China
  2. 2.Department of Medical GeneticsShenyang Medical CollegeShenyangLiaoningP.R. China
  3. 3.National Institute of Occupational HealthCopenhagen ODenmark
  4. 4.Department of EpidemiologyShenyang Medical CollegeShenyangP.R. China

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