海南汉族、黎族人类切除修复交叉互补基因1-4533G／A多态性比较研究

采用盐提取法提取汉族、黎族人群中白细胞的DNA,用聚合酶链反应、限制性内切核酸酶检测切除修复交叉互补基因1(ERCC 1)-4533 G/A多态性的基因型和等位基因频率,同时用χ2检验进行结果分析.结果表明:在185例汉族和190例黎族人群中,ERCC 1-4533 G/A多态性位点有GG,GA,AA 3种基因型,汉族、黎族3种基因型频率分别为5(0.027),178(0.962),2(0.010)和6(0.031),182(0.958),2(0.011),汉族、黎族G和A等位基因频率分别为0.508,0.492和0.511,0.489.ERCC 1是人类核苷酸切除修复系统的重要组成部分,其表达水平与卵巢肿瘤、消化道肿瘤的耐药性有关.海南汉族、黎族人群中ERCC 1-4533 G/A多态性不存在明显的差异.

A Comparative Study on Polymorphism of Human Excision Repair Cross-complementing Gene 1-4533G/A in Han and LI Nationalities in Hainan, China

DNAs were extracted from the white blood cells of people in Hainan by salt-out method in order to study the polymorphism and diversity of human excision repair cross-complementing gene 1-4533G/A in Han and Li nationalities in Hainan,China.Polymerase chain reaction and restriction endonuclease was used to detect the ERCC1-4533G/A polymorphism.Results obtained from this study were listed as followings: 1) Three genotypes of GG,GA and AA were identified in-4533G/A polymorphism of 185 Han and 190 Li nationality individuals;2) The Han and Li nationality genotype frequencies of GG,GA and AA were 0.027,0.962,0.010 and 0.031,0.958,0.011,respectively and the allelic frequencies G and A were 0.508,0.492 and 0.511,0.489,respectively.These results are showed that ERCC1 is the important part of human nucleotide excision repair system,which is relevant to drug resistance of ovary and the alimentary canal tumors. It is of significance to study the polymorphism of ERCC1-4533G/A in drug resistance of tumors.There is no significant difference in phenotype distributions between the Han and Li nationality populations.