母系遗传糖尿病中线粒体tRNA^(leu(UUR))基因突变的研究  

THE MITOCHONDRIAL tRNA leu(UUR) GENE MUTATION IN MATERNALLY INHERITED DIABETES MELLITUS

作　　者：张庆[1] 曾瑞萍[1] 杜传书[1] 程桦[1] 梁奕铨[1] 

机构地区：[1]中山医科大学医学遗传教研室 附属第二医院内分泌科 附属第一医院内分泌科

出　　处：《中华医学遗传学杂志》1997年第2期88-92,共5页Chinese Journal of Medical Genetics

摘　　要：为了解线粒体ｔＲＮＡｌｅｕ（ＵＵＲ）基因ｎｔ３２４３Ａ→Ｇ突变在中国人家族性糖尿病中的发生率及该类糖尿病的临床特征，应用聚合酶链反应（ＰＣＲ）结合限制性内切酶酶切分析，对５８例有母亲患病史（第１组）、３２例有父亲患病（第２组）、４８例有兄弟姐妹患病史（第３组）和５０例无家族史（第４组）的糖尿病患者进行该基因的筛查。在第１组和第３组患者中发现５例突变基因阳性者，并对其中２例先证者的家系成员进行临床和基因分析。结果显示该突变在家族中与糖尿病和耳聋共分离。提示这是一种独特的糖尿病亚型，存在于中国人ＩＤＤＭ和ＮＩＤＤＭ群体中，在母系遗传糖尿病中有较高的发生率。To assess the prevalence and clinical characterization of mitochondrial tRNA leu(UUR) gene at nucleotide 3243 A to G transition in families with diabetic patients in China,we screened 58 unrelated subjects with maternally inherited diabetes mellitus(group 1),32 unrelated subjects with paternally inherited diabetes mellitus(group 2),48 subjects with diabetes troubled sibling(group 3) and 50 unrelated diabetic subjects ascertained without regard to family history(group 4) for the mutation using polymerase chain reaction(PCR) and restriction fragment lenghth polymorphism.Five patients were identified as having the 3243 mutation in group 1 and group 3.Genetic and clinical analyses were performed in family members of two probands.The result showed a consegregation of the mutation in the pedigrees with maternally transmitted diabetes and deafness.We suggest that diabetes mellitus associated with the 3243 point mutation represents a subtype of diabetes found in both patients with IDDM and NIDDM in China.The prevalence of the mutation is relatively high as a cause of maternally inherited diabetes mellitus.

关 键 词：线粒体 TRNA 基因突变 糖尿病 

分 类 号：R587.102[医药卫生—内分泌]