广西壮族与汉族人群E-选择素基因的遗传多态性

Distribution of E-selectin gene polymorphism in the Zhuangs and Hans of Guangxi province in China

目的研究E-选择素(E-selectin)基因第2外显子G98T和第4外显子S128R遗传多态性在广西壮、汉两民族中的分布。方法采用聚合酶链反应-限制性片段长度多态性和DNA序列测定法检测162名壮族人和170名汉族人E-选择素基因第2外显子G98T和第4外显子S128R遗传多态性,比较两组E-选择素基因型和等位基因的分布频率。结果E-选择素基因第2外显子等位基因G、T频率在壮族与汉族正常人群中分别为94.8%、5.2%和95.3%、4.7%;第4外显子等位基因S、R频率分别为92.0%、8.0%和95.9%、4.1%(χ2=4.482,P=0.034)。结论E-选择素基因S128R多态性在广西壮、汉两民族中差异有显著性;E-选择素基因G98T多态性在广西壮、汉两民族中差异无显著性。

Objective To unveil the distribution of E selectin G98T polymorphism in exon 2 and the S128R polymorphism in exon 4 of the Chinese Zhuang and Han ethnic groups in Guangxi province.Methods Polymerase chain reaction restriction fragment length polymorphism (PCR RFLP), gene sequencing and DNA sequencing were performed on 162 healthy Zhuangs and 170 healthy Hans. Results The allele frequencies of G, T for E selectin polymorphism in the exon 2 were 94.8% and 5 2% in Zhuangs, 95.3% and 4.7% in Hans, respectively; The allele frequencies of S, R for E selectin polymorphism in the exon 4 were 92.0% and 8.0% in Zhuangs, 95.9% and 4.1% in Hans, respectively. There was significant difference in frequencies of genotype and allele in E selectin S128R polymorphism between Zhuangs and Hans(χ 2=4.482, P =0.034). Conclusion There was significant difference in the E selectin S128R polymorphism between Zhuangs and Hans. There was no significant difference in the E selectin G98T polymorphism between Zhuangs and Hans.