华南地区人群FAS/FASL基因单核苷酸多态性研究  

The FAS/FASL single nucleotide polymorphism in Southern China population

作　　者：许怡宁[1] 余程明 胡丽莉[1] 

机构地区：[1]广东药科大学生命科学与生物制药学院,广东广州510006

出　　处：《广东医学》2017年第9期1333-1337,共5页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(编号:81101542)

摘　　要：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。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.

关 键 词：华南地区 FAS/FASL 单核苷酸多态性 

分 类 号：R978.2[医药卫生—药品]