Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees.
- Author:
Cai-ling WANG
1
;
Fang LI
;
Qin-zhi HOU
;
Hai-zhen LI
;
Yu ZHANG
;
Guang NING
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Base Sequence; DNA Mutational Analysis; DNA, Mitochondrial; genetics; Deafness; complications; genetics; Diabetes Complications; genetics; Diabetes Mellitus; genetics; Female; Humans; Male; Middle Aged; Mutation; Pedigree; RNA, Transfer, Leu; genetics
- From: Chinese Journal of Medical Genetics 2009;26(1):74-77
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.
METHODSNineteen 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.
RESULTSIn 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).
CONCLUSIONThe mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.
