摘要
目的:分析蛋白质Z(PZ)基因多态性在广东珠三角地区汉族人群中的分布及其与急性缺血性脑卒中(AIS)的关系。方法:采用聚合酶链反应和限制性内切酶片段长度多态性方法结合基因测序技术,对502例AIS和482例健康老人的PZ基因启动子A-13G位点基因型及其内含子F中G79A位点基因型进行测定,并进行相关性比较。结果:首次发现珠三角地区汉族人群中存在PZ启动子A-13G和PZ内含子F中G79A两种基因多态性。PZ启动子A-13G基因型中AA型、AG型、GG型分别为15.9%、52.7%和31.4%;A、G等位基因频率分别为42.4%和57.6%。PZ内含子F中G79A位点基因型AA型、AG型、GG型分别为31.5%、52.0%、16.5%;A、G等位基因频率分别为57.5%和42.5%。AIS组PZ基因内含子F中G79A位点A、G等位基因频率与对照组比较差异有统计学意义(54.1%∶61.1%,45.9%∶38.9%,均P<0.05),且基因型与对照组比较亦差异有统计学意义(P=0.05)。结论:PZ基因内含子F中G79A位点G→A突变,即A等位基因对中国珠三角地区汉族人群AIS的发生有保护作用。
Objective:To explore the protein Z(PZ)gene polymorphisms and its relationship with acute ischemic stroke(AIS)of Han nationality in Guangdong district.Method:We adopted the techniques of polyase chain reaction and the restriction fragment length polymorphisms and gene sequencing to test gene polymorphisms of A-13Gin PZ promoter and G79 Ain PZ intron in 502AIS and 482 healthy elders.The relation between protein Z gene polymorphisms and AIS was studied.Result:We firstly found that the gene polymorphisms were existed in PZ promoter A-13G and PZ intron F G79A.Gene types of AA,AG,GG of A-13Gwere occupied by 15.9%,52.7% and 31.4%,respectively.The allele gene frequency of A and G was 42.4%a nd 57.6%.Gene types of AA,AG,GG of G79A in PZ intron F were 31.5%,52.0%and 16.5%,respectively.The allele gene frequency of A and G were 57.5%and 42.5%,respectively.There were significant differences in A and G allele gene frequency of G79A between AIS group and control group(54.1% vs 61.1%,P<0.05;45.9% vs 38.9%,P<0.05).There was significant difference in gene types of G79A between AIS group and control group(P=0.05).Conclusion:G→A mutation of G79A site in PZ intron F(A allele)has a protective effect on AIS of Chinese Han population in Guangdong district.
出处
《临床血液学杂志》
CAS
2014年第A02期209-213,共5页
Journal of Clinical Hematology
基金
广东省自然科学基金资助项目(No:10151008018000001)
