中文摘要：

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一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一温伯格定律（Hardy—wejnberg）。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-1377G／A和FASL-844T／C在不同人群中基因分布频率存在显著性差异。

英文摘要：

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.