E-选择素基因第2外显子G98T单核苷酸多态性的调查

目的 :研究湖北地区汉族人群E 选择素 (E selectin)基因第 2外显子 98位点的单核苷酸多态性 (SNP) ,比较种族间单核苷酸的基因频率分布差异。方法 :应用聚合酶链反应 限制性片段长度多态性(PCR RFLP)的分析方法 ,检测了 2 40名健康者E selectin第 2外显子 98位点单核苷酸的基因型。结果 :E selectin各基因型频率GG型91.3 % ,GT型 8.7% ;G ,T各等位基因频率分别为 95 .6% ,4.4% ,这种基因多态性分布在男女间均无显著性差异 (P >0 .0 5 )。与其它种族比较 ,发现不同种族间E selectin基因型分布及等位基因频率均存在显著差异 (P <0 .0 5 )。结论 :在湖北地区汉族人群中存在E se lectin基因第 2外显子 98位点的单核苷酸多态性 ,这种多态性在种族间可能存在着较大的差异

Investigation of the Single Nucleotide Polymorphism At Position 98 In the Second Exon of E-selectin Gene

Objective: To study single nucleotide polymorphism in the second exon of E-selectin gene in Chinese Han population of Hubei, and to compare distributions of genotype frequencies of single nucleotide polymorphism among different races.Method: In 240 Chinese Han persons, single nucleotide polymorphism position at 98 in the second exon of E-selectin was detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.Results: In healthy people of China E-selectin genotype the frequency of GG was 91.3 %, GT was 8.7 %; The allelic gene frequency of G was 95.6 %,T was 4.4%,this kind of gene polymorphism had no difference between male and female (P>0.05). Compared with other ethnics, the distributions of E-selectin genotype were significantly different among ethnics (P<0.05).Conclusion: Single nucleotide polymorphism at position 98 in the second exon of E-selectin gene exited in Han population of Hubei, and its distribution was significantly different among ethnics.