Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 134-137, 2006.
Artigo
em Inglês
| WPRIM
| ID: wpr-263835
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).</p><p><b>METHODS</b>Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations.</p><p><b>RESULTS</b>Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.</p><p><b>CONCLUSION</b>The above identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in cardiogenesis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Éxons
/
Mutação Puntual
/
Substituição de Aminoácidos
/
Mutação de Sentido Incorreto
/
Povo Asiático
/
Fator de Transcrição GATA4
/
Genética
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Humanos
/
Lactente
Idioma:
Inglês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Artigo
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