中国湖北地区汉族人群L-选择素基因P213S多态性研究

目的:了解中国湖北地区汉族人群L-选择素基因第六外显子P213S多态性分布,并与其它地区的分布进行比较。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测206名健康者L-选择素基因P213S多态性基因型和等位基因频率分布。结果:L-选择素各基因型频率分别为PP型(45.63%)、PS型(49.03%)和SS型(5.34%)。P、S等位基因频率分别为70.15%和29.85%,这种基因多态性分布无性别差异(P>0.05)。湖北地区汉族人群L-选择素基因型和等位基因频率分布与英国及日本人有显著性差异(P<0.05)。结论:湖北地区汉族人群中存在L-选择素基因多态性,与其它地区分布比较有明显的差异。

Distribution of L-selectin P213S Polymorphism in Chinese Han Population of Hubei Province

Objective: To investigate the distribution of polymorphism at codon P213S in the exon 6 of L-selectin gene in healthy Chinese Han population in Hubei province and compare with distvibution of L-selectin gene polymorphism in other areas.Method: L-selectin gene polymorphism was studied by using the method of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 206 healthy Chinese Han population of Hubei area.Results: The frequencies of L-selectin genotype PP, PS and SS are 45.63%, 49.03%, 5.34%, respectively. The allele gene frequency of P is 70.15%, S is 29.85%. This kind of gene polymorphism has no difference between male and female (P>0.05), but there are significantly difference among Chinese, English and Japanese (P<0.05). Conclusion: The gene polymorphism at codon P213S in L-selectin exists in Han population of Hubei, and its distribution is significantly different among areas.