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
в Zh
| WPRIM
| ID: wpr-334938
Ответственная библиотека:
WPRO
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>
Полный текст:
1
База данных:
WPRIM
Основная тема:
Pedigree
/
DNA Mutational Analysis
/
China
/
Genetic Testing
/
Epidemiology
/
Age of Onset
/
Diabetes Mellitus, Type 2
/
Hepatocyte Nuclear Factor 4
/
Genetics
/
Mutation
Тип исследования:
Prognostic_studies
Пределы темы:
Adult
/
Female
/
Humans
/
Male
Страна как тема:
Asia
Язык:
Zh
Журнал:
Journal of Southern Medical University
Год:
2006
Тип:
Article