Thomas A W, Edwards A, Sherratt E J, Majid A, Gagg J, Alcolado J C
Department of Medicine, University Hospital of Wales, Heath Park, Cardiff, UK.
J Med Genet. 1996 Mar;33(3):253-5. doi: 10.1136/jmg.33.3.253.
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.
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。