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Mitochondrial DNA variations in patients with Type 2 (non‐insulin dependent) diabetes mellitus and a Welsh control population
Author(s) -
Sherratt Emma J.,
Thomas Andrew W.,
Gagg James W.,
Majid Aneela,
Alcolado John C.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<412::aid-humu13>3.0.co;2-n
Subject(s) - biology , mitochondrial dna , welsh , population , diabetes mellitus , insulin , dna , endocrinology , genetics , medicine , bioinformatics , demography , gene , linguistics , philosophy , sociology
Type 2 (non‐insulin dependent) diabetes mellitus may be inherited along the maternal line and a variety of mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis. We have previously reported mutations in five regions of the mitochondrial genome which encompass 11 of the 22 tRNA genes. Now we employ the technique of single stranded conformational polymorphism (SSCP) analysis to investigate a further 6 regions of the mitochondrial genome, covering the remaining 11 tRNA genes in 40 patients with Type 2 diabetes and 30 racially‐matched normal controls. A variety of homoplasmic mutations were detected in patients with diabetes and these will be of value in further population association studies. Hum Mutat 13:412–413, 1999. © 1999 Wiley‐Liss, Inc.