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新发现的线粒体16S rRNA基因突变,3200T→C,与成人期发作二型糖尿病相关

杨涛 林青云 曾文和 汤瑞芬 甘尔惠 陈婉珊 潘妙娟 巫向前 彭智培

中华医学杂志(英文版)2002,Vol.115Issue(5):753-758,6.
中华医学杂志(英文版)2002,Vol.115Issue(5):753-758,6.

新发现的线粒体16S rRNA基因突变,3200T→C,与成人期发作二型糖尿病相关

Novel mitochondrial 16S rRNA mutation, 3200T→C, associated with adult-onset type 2 diabetes

杨涛 1林青云 2曾文和 1汤瑞芬 3甘尔惠 1陈婉珊 3潘妙娟 1巫向前 1彭智培4

作者信息

  • 1. 中国香港,香港中文大学化学病理学系
  • 2. 中国医学科学院,北京协和医科大学,基础医学研究所医学遗传室,北京,100005
  • 3. 中国香港,香港基督教联合医院医疗系
  • 4. 上海第二医科大学卫生学校,上海,200025
  • 折叠

摘要

Abstract

Objective To investigate the role of a potential diabetes-related mitochondrial region, w hich includes two previously reported mutations, 3243AG and 3316GA, in Chine se patients with adult-onset type 2 diabetes.Methods A total of 277 patients and 241 normal subjects were recruited for the study. M itochondrial nt 3116-3353, which spans the 16S rRNA, tRNAleu(UUR) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length p olymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fis her exact test. The function of the variants in 16S rRNA were predicted for mi nimal free energy secondary structures by RNA folding software mfold version 3.

关键词

二型糖尿病 线粒体DNA 16S 核糖体RNA RNA二级结构模拟

Key words

type 2 diabetes/mitochondrial DNA/16S ribosomal RNA/RNA secondary structure modeling

分类

医药卫生

引用本文复制引用

杨涛,林青云,曾文和,汤瑞芬,甘尔惠,陈婉珊,潘妙娟,巫向前,彭智培..新发现的线粒体16S rRNA基因突变,3200T→C,与成人期发作二型糖尿病相关[J].中华医学杂志(英文版),2002,115(5):753-758,6.

基金项目

This study was supported by Direct Grants from the Chinese University of Hong Ko ng (No. 2040585 and 2040661). (No. 2040585 and 2040661)

中华医学杂志(英文版)

OAMEDLINESCI

0366-6999

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