NPHS2基因C(-601)T-C357T单倍型与IgA肾病的相关分析  

The Correlations of the NPHS2 C(-601)T-C357T Haplotype and IgA Nephropathy

作　　者：于磊[1] 刘国平[1] 

机构地区：[1]内蒙古自治区医院肾内科,内蒙古呼和浩特010017

出　　处：《内蒙古医学杂志》2011年第2期135-139,共5页Inner Mongolia Medical Journal

基　　金：内蒙古自然科学博士基金(2010BS1102)

摘　　要：目的:本研究充分利用大样本病人探讨NPHS2基因C(-601)T-C357 T单倍型对IgA肾病的影响。方法:选择经肾活检病理诊断确诊的原发性IgA肾病患者537例及年龄、性别、地域匹配的健康对照组494例,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测NPHS2基因C(-601)T、C357 T多态性,同时选取单纯血尿和大量蛋白尿的IgA患者各16例进行PCR产物测序,对酶切结果进行验证。结果:①IgA肾病患者和健康对照中NPHS2基因C(-601)T、C357T基因型和等位基因频率分布均符合Hardy-Weinberg平衡定律(P>0.05)。②将NPHS2基因C(-601)T、C357T多态性构建单倍型,发现NPHS2基因T-T单倍型在IgA肾病患者中的比例较健康对照组明显增高(0.062759 vs 0.1032438,P=0.00198)。结论:本研究发现T-T单倍型在IgA肾病患者中的比例明显增高,提示NPHS2基因T-T单倍型对临床IgA肾病的发生及严重程度具有重要作用,为IgA肾病遗传背景的研究以及进一步阐明NPHS2基因的功能均提供了重要线索。Objective：In a large sample of north China,we investigated a possible association of the NPHS2 C（-601）T-C357T haplotype with the IgA Nephropathy（IgA N）.Method：Genomic DNA was isolated from peripheral blood leucocytes.A total of 537 patients with histologically proven IgA N and 494 age-,sex-,geographically-matched healthy controls were genotyped for the NPHS2 C（-601）T、C357T polymorphism by polymerase chain reaction combined with restriction fragment length polymorphism（PCR-RFLP）.At the same time,in order to validate the NPHS2 polymorphism,the polymorphisms of NPHS2 were analyzed by direct DNA sequencing in 32 chinese patients with IgA N（16 patients with heavy proteinuria and 16 patients with isolated hematuria）.Resuts：All populations （i.e.patients with IgA N,healthy controls） were in hardy weinberg equilibrium at each SNP site.The frequency of haplotype T-T was significantly higher in IgA N patients（0.062759 vs 0.1032438,P=0.00198）.Conclusion：The study suggested the polymorphism and haplotype of NPHS2 gene were associated with the genetic susceptibility to IgA N.

关 键 词：IGA肾病 NPHS2基因 PODOCIN 

分 类 号：R586[医药卫生—内分泌]