华南地区人群FAS/FASL基因单核苷酸多态性研究

目的 研究细胞表面诱导凋亡因子(FAS)及其配体(FASL)基因启动子区单核苷酸多态(SNP)FAS-1377G/A、FAS-670A/G和FASL-844T/C在华南地区人群中的分布,并比较他们在不同地区人群之间的分布差异.方法 采用聚合酶链式反应-限制性酶切片段长度多态性(PCR-RFLP)方法检测FAS和FASL基因启动子区多态基因型,比较不同人群间等位基因频率分布差异.结果 华南地区人群FAS-1377位G和A等位基因分布频率分别为48.61%、51.39%;FAS-670位A和G等位基因分布频率分别为59.03%、40.97%;FASL-844位T和C等位基因分布频率分别为27.67%、72.33%.3个多态位点基因型分布均符合哈迪-温伯格定律(Hardy-Weinberg).华南地区人群FAS-1377等位基因频率与不同国家及中国不同地区人群差异均有统计学意义,FASL-844等位基因频率与印度、埃及、伊朗和突尼斯人群差异有统计学意义(P<0.05),而FAS-670A/G未发现显著差异.结论 FAS/FASL基因在华南地区人群中存在FAS-1377G/A、FAS-670A/G和FASL-844C/T多态性,其中,FAS-1377 G/A和FASL-844T/C在不同人群中基因分布频率存在显著性差异.

The FAS/FASL single nucleotide polymorphism in Southern China population

Objective To investigate the distribution of FAS and FASL single nucleotide polymorphism (SNP) FAS-1377G/A, FAS-670A/G and FASL-844T/C in southern Chinese people, and compare the distributional differences among different populations.Methods Sequence variations were detected by PCR-RFLP, genotype and allele frequency distribution differences among different ethnicity were tested by chi-square test.Results The frequencies of G and A for FAS-1377G/A were 48.61% and 51.39%, respectively;of A and G for FAS-670A/G were 59.03% and 40.97%, respectively;and of T and C for FASL-844T/C were 27.67% and 72.33%, respectively.The distributions of the 3 different genotypes were concordant with the Hardy-Weinberg equilibrium.Significant differences were observed in the allele frequency of FAS-1377G/A between the Southern China population with the other different populations in China or other countries;so they were of FASL-844T/C between the Southern China population and Indian, Egyptian, Iranian or Tunisian populations (P<0.05).No difference found between the Southern China and any one of the other population in FAS-670A/G.Conclusion The population of Southern China has the FAS/FASL gene polymorphisms FAS-1377G/A, FAS-670A/G and FASL-844T/C.There are significant differences in the allele frequencies of FAS-1377G/A and FASL-844T/C between different populations.