Molecular scanning of MODY1 gene mutations in pedigrees of early onset type 2 diabetes in Beijing / 南方医科大学学报
Journal of Southern Medical University
;
(12): 1301-1303, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-334938
ABSTRACT
<p><b>OBJECTIVE</b>To explore MDOY1 gene mutations in pedigrees of early-onset familial type 2 diabetes.</p><p><b>METHODS</b>We collected 100 early-onset type 2 diabetes pedigrees in Beijing, in which the probands were diagnosed with type 2 diabetes before the age of 40 years with at least one first-degree relative having such a diagnosis before the age of 45 years. PCR was employed to amplify all the exons and exon/intron splice sites of MDOY1 gene and the PCR products were sequenced to identify the DNA variants.</p><p><b>RESULTS</b>Two DNA variants in the noncoding region including IVS1C +44A>T and IVS2 -5C>T were identified, and 3 mutations in the coding region we identified M49V, T130I, and S462S were found in these pedigrees.</p><p><b>CONCLUSION</b>Currently no sufficient evidence has been obtained to identify the variation in or near MDOY1 genes as the major cause of early-onset type 2 diabetic in Chinese population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
China
/
Genetic Testing
/
Epidemiology
/
Age of Onset
/
Diabetes Mellitus, Type 2
/
Hepatocyte Nuclear Factor 4
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Journal of Southern Medical University
Year:
2006
Type:
Article
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