中国早发2型糖尿病家系MODY 1-5基因测定

 【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MODY 1-5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MODY 1-5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,MODY 1-5基因突变不是该19个早发糖尿病家系的致病因素｡

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

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.