西北大学学报（自然科学版）
西北大學學報（自然科學版）
서북대학학보（자연과학판）
JOURNAL OF NORTHWEST UNIVERSITY(NATURAL SCIENCE EDITION)
2010年
2期
282-286
,共5页
张科进%王廷曦%郑子健%高晓彩%李瑞林%张富昌
張科進%王廷晞%鄭子健%高曉綵%李瑞林%張富昌
장과진%왕정희%정자건%고효채%리서림%장부창
精神发育迟滞%PAK3%PCR-SSCP
精神髮育遲滯%PAK3%PCR-SSCP
정신발육지체%PAK3%PCR-SSCP
mental retardation%p21-activated kinase3%PCR-SSCP
目的 探究PAK3(p2-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(χ~2=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:X~GY,0.392;X~GY,0.108;X~GX~G,0.306;X~GX~G,0.170;X~GX~G,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.
目的 探究PAK3(p2-activated kinase 3)基因與精神髮育遲滯(mental retardation,MR)之間可能的相關性.方法 採用病例-對照研究,利用PCR-SSCP方法對PAK3基因rs17327273位點多態性與秦巴山區兒童精神髮育遲滯之間進行瞭相關性分析.結果 對rs17327273多態位點GG,GC和CC3種基因型頻率進行Hardy-Weinberg平衡檢驗,3種基因型在總體人群中的分佈符閤Hardy-Weinberg平衡(χ~2=6.793,df=3,P>0.05),併由總體人群計算得等位基因頻率:G,0.773;C,0.217.基因型頻率為:X~GY,0.392;X~GY,0.108;X~GX~G,0.306;X~GX~G,0.170;X~GX~G,0.024.分析顯示,等位基因及基因型在病例組、邊緣組與對照組之間的分佈上均無顯著性差異,等位基因在各組內性彆之間亦無顯著性差異(P>0.05).結論 PAK3基因rs17327273位點多態性與秦巴山區精神髮育遲滯之間無顯著相關性.
목적 탐구PAK3(p2-activated kinase 3)기인여정신발육지체(mental retardation,MR)지간가능적상관성.방법 채용병례-대조연구,이용PCR-SSCP방법대PAK3기인rs17327273위점다태성여진파산구인동정신발육지체지간진행료상관성분석.결과 대rs17327273다태위점GG,GC화CC3충기인형빈솔진행Hardy-Weinberg평형검험,3충기인형재총체인군중적분포부합Hardy-Weinberg평형(χ~2=6.793,df=3,P>0.05),병유총체인군계산득등위기인빈솔:G,0.773;C,0.217.기인형빈솔위:X~GY,0.392;X~GY,0.108;X~GX~G,0.306;X~GX~G,0.170;X~GX~G,0.024.분석현시,등위기인급기인형재병례조、변연조여대조조지간적분포상균무현저성차이,등위기인재각조내성별지간역무현저성차이(P>0.05).결론 PAK3기인rs17327273위점다태성여진파산구정신발육지체지간무현저상관성.
Aim To investigate the possible genetic association of mental retardation with PAK3 gene rs17327273 polymorphism in the Qinba Mountain area children.Methods A cage-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 X~GY,X~GY,X~GX~G,X~GX~G,and X~GX~G 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 result 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.
