桂西壮族散发性激素耐药型肾病综合征NPHS2基因多态性分析研究  

Analysis of NPHS2 gene polymorphism in SRNS of Zhuang ethnic group in western Guangxi

作　　者：覃幼玲 林栩[1] 尤燕舞[1] 王洁[1] 李仕良[1] 钟秋红[1] 黄鹏[1] 郭鹏威[1] 

机构地区：[1]右江民族医学院附属医院肾内科,百色533000

出　　处：《右江医学》2015年第4期397-400,共4页Chinese Youjiang Medical Journal

基　　金：2011年广西高校科研项目(200103YB116)

摘　　要：目的探讨桂西壮族散发性激素耐药型肾病综合征(SRNS)患者NPHS2基因突变及其特点。方法采用DNA序列直接测定法检测50例桂西壮族散发性SRNS患儿(观察组)血清NPHS2基因全部外显子及其周围的部分内含子,并与30例健康青少年(对照组)进行比较。结果观察组NPHS2基因的8个外显子均未检测到错义突变,但检测到3个NPHS2基因多态性即288C>T、954C>T和1038A>G;观察组的基因型和等位基因频率与对照组分别进行比较,差异均无统计学意义(P>0.05)。结论提示NPHS2基因多态可能不是桂西壮族散发性SRNS患儿的主要致病原因。Objective To explore the mutation and characteristics of NPHS2 gene in patients with sporadic steroid-resistant nephritic syndrome（ SRNS） in Zhuang ethnic group in western Guangxi. Methods Direct measurement of DNA sequence was applied to test all the exons and some surrounding introns of serum NPHS2 gene in 50 cases of children with sporadic SRNS（ observation group）,and then compared them with those of 30 healthy children（ control group）. Results No missense mutation was found in the detection of the 8 exons of NPHS2 gene in the observation group,but 3 polymorphism of NPHS2 gene（ 288 C〉 T,954 C〉 T and 1038 A 〉G） were found. The genotype and allele frequency of the observation group were compared with those of the control group respectively,difference was not statistically significant（ P〉 0. 05）. Conclusion The results show that the mutation of NPHS2 gene may not be the main cause of sporadic SRNS in Zhuang ethic group in western Guangxi.

关 键 词：NPHS2基因 激素耐药型肾病综合征 种族 

分 类 号：R692[医药卫生—泌尿科学]