载脂蛋白H基因7号外显子多态性与长沙地区汉族人脑卒中的相关性

目的 研究载脂蛋白H(apoH)基因7号外显子G817T(Leu247Val)多态性与长沙地区汉族人脑卒中的关系。方法 应用聚合酶链反应-单链构象多态(PCR-SSCP)技术和DNA序列测定法检测长沙地区汉族260例脑卒中患者(脑梗死组和脑出血组各130例)、20个脑卒中家系的成员(脑梗死组10个家系,142例成员,其中患病组25例;脑出血组10个家系,122例成员,其中患病组21例)、100名健康对照者的apoH基因7号外显子G817T(Leu247Val)多态;酶联免疫吸附法检测所有研究对象的血清抗磷脂抗体(APA)水平。结果 在脑梗死组,G817T(Leu247Val)多态T等位基因频率(0.338)明显高于对照组(0.220,P<0.05)。进一步研究发现,有家族史的脑梗死组T等位基因频率(0.370)明显高于对照组(0.220,P<0.05);APA阳性脑梗死组GT基因型频率明显高于对照组及APA阴性脑梗死组(P<0.01,P<0.05),T等位基因频率(0.439)明显高于对照组(0.220,P<0.01)。以脑梗死为主的家系中患病组与未患病组T等位基因频率(0.404,0.332)均明显高于对照组(0.220,P<0.05),未患病组GT基因型频率明显高于对照组(P<0.05)。apoH基因G817T(Leu247Val)多态性与脑出血无关。结论 长沙地区汉族人apoH基因G817T(Leu247Val)多态基因频率分布具有脑卒中家族聚集性。G817T(Leu247Val)多态GT基因型和T等位基

The relationship between apolipoprotein H gene polymorphism and stroke in Changsha Hans

Objective To study the relationship between G817T( Leu247Val) polymorphism in exon 7 of apolipoprotein H ( apoH) gene and stroke in Changsha Hans. Methods G817T ( Leu247Val) polymorphism in apoH gene was determined by PCR-single strand conformation polymorphism (PCR-SSCP) analysis and DNA sequencing among 260 patients with stroke, 20 stroke pedigrees and 100 healthy controls. Serum antiphospholid antibody ( APA) levels were tested by enzyme-linked immunosorbent assay (ELISA). Results The frequencies of GT genotype and T allele were significantly higher in CI (0. 531, 0.338) than in control (0.340,0.220) , especially in CI with family history of stroke or APA positive patients. The frequencies of GT genotype and T allele were also significantly higher in CI pedigrees than in the controls . There was no association between G817T(Leu247Val) polymorphism and CH . Conclusions In changsha Hans,the distribution of G817T( Leu247Val) polymorphism might show a family assembly of stroke. GT genotype and T allele in G817T(Leu247Val) polymorphism might be a genetic risk factor of CI with positive APA or with family history of stroke in Changsha Hans.