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[与线粒体DNA A3243G突变相关的糖尿病。关于一例病例]

[Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Apropos a case].

作者信息

Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler J

机构信息

Unidad de Endocrinología, Hospital Universitari de Girona Doctor Josep Trueta.

出版信息

Med Clin (Barc). 1999 Jan 30;112(3):99-101.

Abstract

The mitochondrial A3243G mutation of the tRNA(Leu) has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43-years-old woman with maternally inherited diabetes and deafness since she was 29. The association of sensorineural deafness and maternal inherited diabetes are the clues to suspect this subtype of diabetes.

摘要

线粒体tRNA(亮氨酸)的A3243G突变已在母系遗传的糖尿病和耳聋家系中被描述。对10名患有感音神经性耳聋的糖尿病患者进行了研究。进行了聚合酶链反应和Apa I酶切分析。仅在一名患者(1/10)中发现了异质性突变。她是一名43岁的女性,自29岁起患有母系遗传的糖尿病和耳聋。感音神经性耳聋与母系遗传糖尿病的关联是怀疑这种糖尿病亚型的线索。

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