[Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees].
OBJECTIVE
To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.


METHODS
Nineteen suspected mitochondrial DNA diabetic family members from three families were recruited. The gene fragment was amplified by PCR, and mutation was detected by direct sequencing.


RESULTS
In three pedigrees, the three probands and their mothers were found carrying the most common nt3243A>G mutation. Most of diabetic patients in these families were deaf and diabetes was developed at early age, characterized by impaired beta cell function and low body mass index (BMI).


CONCLUSIONS
The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.
Wang
Cai-ling
CL
Department of Endocrinology and Metabolism, Qianfoshan Hospital, Jinan, Shandong, 250014 PR China. sdqy.wcl@163.com
Li
Fang
F
Hou
Qin-zhi
QZ
Li
Hai-zhen
HZ
Zhang
Yu
Y
Ning
Guang
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000235:genetics; D048909:Diabetes Complications / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu