Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer
Polymorphisms of the XRCC1 DNA repair gene in head and neck cancer
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DOI：
10.1007/bf03032401
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发表时间：
2005-01-01
影响因子：
2.8
通讯作者：
Dalay, N
中科院分区：
文献类型：
--
作者：
Demokan, S;Demir, D;Dalay, N
控制细胞周期或在DNA修复机制中起作用的基因的遗传多态性可能损害其功能并导致遗传易感性。DNA修复异常在头颈癌中有报道。XRCC1基因在单链断裂和碱基切除修复过程中起作用。本研究对95例头颈部癌患者的XRCC1基因Arg194Trp和Arg399Gln两种多态性进行了研究。用PCR扩增多态性区域，然后用甲基化特异性限制性内切酶酶切，并进行电泳分析。计算基因型和等位基因频率，并调查其与癌症风险或临床参数的关系。在基因型和头颈癌之间没有观察到任何多态性的关联。等位基因的分布在患者和对照组之间没有显著差异。吸烟个体中仅发现Trp194等位基因有显著相关性。我们的数据表明，Arg194Trp和Arg399Gln多态性不会导致头颈癌发生的显著风险。
Inherited polymorphisms in the genes controlling the cell cycle or functioning in the DNA repair mechanisms may impair their function and contribute to genetic susceptibility. Abnormalities in the DNA repair have been reported in head and neck cancer. The XRCC1 gene functions in single-strand break and base excision repair processes. In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 patients with head and neck carcinoma. The polymorphic regions were amplified by PCR followed by digestion with methylation-specific restriction enzymes, and analyzed electrophoretically. Genotype and allele frequencies were calculated, and association with cancer risk or clinical parameters was investigated. No association was observed between the genotypes and head and neck cancer for either polymorphism. Distribution of the alleles did not significantly differ between the patients and the control group. A significant association was only found for the Trp194 allele among the smoking individuals. Our data indicate that the Arg194Trp and Arg399Gln polymorphisms do not confer a significant risk for head and neck carcinogenesis.