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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Exones
/
Mutación Puntual
/
Sustitución de Aminoácidos
/
Mutación Missense
/
Pueblo Asiatico
/
Factor de Transcripción GATA4
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
Chinese Journal of Medical Genetics
Año:
2006
Tipo del documento:
Artículo
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