中国家族性糖尿病人群中线粒体基因突变筛查.pdfVIP

中国组织工程研究与临床康复 ，2誊 2勋 2008一O1一O8出版 Journal ofClinical Rehabilitative Tissue Engineering Research January 2008 VoL 12，No 2 中国家族性糖尿病人群中线粒体基因突变筛查★☆ 王遂军’。 ，吴松华’，郑泰山’，杨 震’，陆惠娟’，项坤三’ Screening gene mutations of mitochondrial DNA in familial diabetes mellitus in Chinese population Wang Sui-jun 2，Wu Song．hua’，Zheng Tai．shan’，Yang Zhen’，ku Hui-juan’，Xiang Kun．san’ Abstract Shahghai Institution AIM：Some foreign studies show that the T to C mutation at nucleotide 14709(mtl4709)in the mitochondrial transfer RNAGlu of Diabetes， (tItNA )region and the C to A mutation at nucleotide 12258(mtl2258)in the mitochondrial transfer RNA (tRNA region may Shahghai Sixth People’s Hospital， be correlated to the prevalence of diabetes mellitus．However,there is no report about the correlation between these mutations and Shanghai liao Tong diabetes mellitus in Chinese．In this study．the prevalence of the mutation in familial diabetes mellitus in Chinese population was University,Shahghai investigated．and the correlation between mutations and diabetes mellitus was explored． 200233， China； Department of METHoDS：①Between August 2004 and May 2006，770 unrelated probands of diabetic pedigrees were randomly selected from Endocrinology, the Clinical and Genetic DatabaseDNA Bank for diabetes in Chinese．and 309 unrelated normal people were selected as contro1． He。nail People’s AU the subjects were Han people．and participated in the study voluntarily．The experiment was permiRed by the Hospital Ethics Hospital，Zbengzhou 450003． Henan Committee．②The T to C mutation at mt14709 in tRNA region and the C to A mutation at mcl2258 in tRNA region were Province。China detected with polymerase chain reaction—restriction fragment length polymorphism analysis(PCR—RFLP)and PCR．direct—s