PAK3基因rs17327273位点多态性与秦巴山区精神发育迟滞的相关性研究  

Association study of PAK3 gene rs17327273 polymorphisms with mental retardation in Qinba Mountain area

作　　者：张科进[1] 王廷曦[1] 郑子健[2] 高晓彩[1,2] 李瑞林[3] 张富昌[1,2] 

机构地区：[1]西北大学生命科学学院人口与健康研究所,陕西西安710069 [2]西北大学公共管理学院应用心理学研究所,陕西西安710069 [3]西安交通大学第二附属医院,陕西西安710004

出　　处：《西北大学学报（自然科学版）》2010年第2期282-286,共5页Journal of Northwest University（Natural Science Edition）

基　　金：国家自然科学基金资助项目(30470577);国家"十五"科技攻关计划基金资助项目(2001BA901A49)

摘　　要：目的探究PAK3(p21-activated kinase 3)基因与精神发育迟滞(mental retardation,MR)之间可能的相关性。方法采用病例-对照研究,利用PCR-SSCP方法对PAK3基因rs17327273位点多态性与秦巴山区儿童精神发育迟滞之间进行了相关性分析。结果对rs17327273多态位点GG,GC和CC3种基因型频率进行Hardy-Weinberg平衡检验,3种基因型在总体人群中的分布符合Hardy-Weinberg平衡(χ2=6.793,df=3,P>0.05),并由总体人群计算得等位基因频率:G,0.773;C,0.217。基因型频率为:XGY,0.392;XCY,0.108;XGXG,0.306;XGXC,0.170;XCXC,0.024。分析显示,等位基因及基因型在病例组、边缘组与对照组之间的分布上均无显著性差异,等位基因在各组内性别之间亦无显著性差异(P>0.05)。结论PAK3基因rs17327273位点多态性与秦巴山区精神发育迟滞之间无显著相关性。Aim To investigate the possible genetic association of mental retardation with PAK3 gene rs17327273 polymorphism in the Qinba Mountain area children.Methods A case-control association study was performed to focus on the Qinba Mountain area children using a common SNPs in the gene（rs17327273）.PCR-SSCP methods were used to detect the relationships between PAK3 rs17327273 polymorphisms and mental retardation.Results In the total population,the genotype frequencies for types XGY,XCY,XGXG,XGXC,and XCXC were found to be 0.389 3,0.110 7,0.303 2,0.172 3,and 0.024 5 respectively,with the allele frequencies 0.778 7 for G and 0.221 3 for C.All of the genotype distributions matched the equilibrium law of Hardy-Weinberg.The results of the case-control analysis showed that there were no significant differences of either allele or genotype frequencies of the single nucleotide polymorphisms between MR and controls nor between Border and controls.A breakdown comparison was conducted between male and female within different groups,yet no positive results were found.Conclusion The study suggests that PAK3 rs17327273 polymorphisms do not have a measurable impact on mental retardation in the Qinba Mountain area children.

关 键 词：精神发育迟滞 PAK3 PCR-SSCP 

分 类 号：Q987[生物学—遗传学]