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2型(非胰岛素依赖型)糖尿病候选线粒体tRNA基因的分子扫描

Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.

作者信息

Thomas A W, Edwards A, Sherratt E J, Majid A, Gagg J, Alcolado J C

机构信息

Department of Medicine, University Hospital of Wales, Heath Park, Cardiff, UK.

出版信息

J Med Genet. 1996 Mar;33(3):253-5. doi: 10.1136/jmg.33.3.253.

DOI:10.1136/jmg.33.3.253
PMID:8728705
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051881/
Abstract

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.

摘要

线粒体DNA(mtDNA)基因缺陷可能在非胰岛素依赖型糖尿病(NIDDM)的发生发展中起作用。为了寻找潜在的致糖尿病性mtDNA缺陷,我们对124例有NIDDM病史的患者和40例非糖尿病对照者应用了单链构象多态性(SSCP)分析技术。未检测到新的异质性突变。然而,在NIDDM患者中发现了多种同质性变异;其中一些值得进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e97/1051881/40155e9b6ebe/jmedgene00257-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e97/1051881/1fc5fa97c49d/jmedgene00257-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e97/1051881/40155e9b6ebe/jmedgene00257-0078-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e97/1051881/1fc5fa97c49d/jmedgene00257-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e97/1051881/40155e9b6ebe/jmedgene00257-0078-b.jpg

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本文引用的文献

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Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.一种新的母系遗传脑病的线粒体DNA序列分析
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Mitochondrial gene defects in patients with NIDDM.非胰岛素依赖型糖尿病患者的线粒体基因缺陷
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Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
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7
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