Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 493-496, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-234375
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).</p><p><b>METHODS</b>Three patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.</p><p><b>RESULTS</b>In the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.</p><p><b>CONCLUSION</b>In Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Éxons
/
Desidrogenase de Glutamato (NADP/)
/
Mutação de Sentido Incorreto
/
Hiperinsulinismo Congênito
/
Povo Asiático
/
Genética
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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