中国早发2型糖尿病家系MODY 1-5基因测定  

Screening for Mutations of MODY 1-5 Genes in Chinese Families with Early-onset Type 2 Diabetes

作　　者：严晋华[1] 沈云峰[1] 余秋琼[1] 梁华[1] 蔡梦茵[1] 翁建平[1] 

机构地区：[1]中山大学附属第三医院内分泌科,广东广州510630

出　　处：《中山大学学报（医学科学版）》2009年第4期437-440,F0003,共5页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金(30570885)

摘　　要：【目的】通过对早发2型糖尿病家系先证者进行直接测序,寻找中国人群中可能存在的青少年的成人发病型糖尿病(MODY)1-5基因突变。【方法】对19个早发2型糖尿病家系的先证者进行MODY1-5基因扩增和DNA直接测序。【结果】19个先证者未发现MODY基因突变,但发现MODY1-5基因分别存在6、5、15、1、1种多态性。【结论】MODY相关基因突变具有种族异质性,MODY1-5基因突变不是该19个早发糖尿病家系的致病因素。[Objective] The aim of our study was to seek the mutations in MODY1-5 genes in Chinese population by direct sequencing in probands from families with early-onset type 2 diabetes. [ Methods] Variants screening in MODY 1-5 genes were performed by PCR and direct sequencing in 19 probands from early-onset type 2 diabetes families. [Results] We found no mutation but many polymorphisms. There were 6, 5, 15, 1, and 1 variants in MODY 1-5 genes respectively. [Conclusion] Our negative results in MODY genes suggest the genetic heterogeneity of different populations. Mutations in MODY 1-5 genes might not be the cause of diabetes in those 19 families.

关 键 词：早发2型糖尿病 基因突变 青少年的成人发病型糖尿病 

分 类 号：R58[医药卫生—内分泌]