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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
China
/
Testes Genéticos
/
Epidemiologia
/
Idade de Início
/
Diabetes Mellitus Tipo 2
/
Fator 4 Nuclear de Hepatócito
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Southern Medical University
Ano de publicação:
2006
Tipo de documento:
Artigo
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