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

نویسندگان

  • A W Thomas
  • A Edwards
  • E J Sherratt
  • A Majid
  • J Gagg
  • J C Alcolado
چکیده

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.

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Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 33 3  شماره 

صفحات  -

تاریخ انتشار 1996