Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 74-77, 2009.
Article
in Zh
| WPRIM
| ID: wpr-287450
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
DNA, Mitochondrial
/
DNA Mutational Analysis
/
RNA, Transfer, Leu
/
Base Sequence
/
Deafness
/
Diabetes Complications
/
Diabetes Mellitus
/
Genetics
/
Mutation
Limits:
Adolescent
/
Adult
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Aged
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article