筛查某家族性局灶节段硬化性肾小球肾炎家庭的NPHS2基因  

NPHS2 screening for a family of focal and segmental glomerulosclerosis

作　　者：卢彦平[1] 程静[2] 衣京梅[3] 袁慧军[2] 李亚里[1] 

机构地区：[1]解放军总医院妇产科,北京100853 [2]解放军总医院耳鼻咽喉研究所分子诊断中心,北京100853 [3]解放军总医院儿科,北京100853

出　　处：《分子诊断与治疗杂志》2011年第1期14-17,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：目的为某个有两个儿童患者死于局灶节段硬化性肾小球肾炎的家庭查找致病原因。方法取孕18周后的羊水进行染色体检查,同时提取夫妇静脉血DNA、死亡男童肾组织DNA及胎儿羊水DNA,进行NPHS2基因检测。结果胎儿染色体未见异常;孕妇NPHS2基因检测发现c.954C>T变异,此改变位于第8外显子,不引起氨基酸的改变,为一已知的多态核苷酸;丈夫NPHS2基因未见异常。结论 NPHS2基因不是该家系的致病基因。Objective To identify causative mutation gene for one family of focal and segmental glomerulosclerosis（FSGS） with two dead children and perform karyotyping analysis for their fetus. Methods The genomic DNA from both peripheral blood of this couple and amniotic fluid of the fetus were isolated. DNA from the dead boy＇s kidney tissues fixed with formalin were also isolated. NPHS2 screening was performed for this DNAs. Results The fetus has normal karyotype; the wife has a c. 954C〉T mutation of NPHS2 and this is a SNP, The husband has no change in NPHS2 gene. ConcLusion NPHS2 is not the causitive mutation gene of this family.

关 键 词：局灶节段性肾小球硬化 NPHS2 激素抵抗型肾病综合征 

分 类 号：R692.3[医药卫生—泌尿科学]