Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients / 中华心血管病杂志
Chinese Journal of Cardiology
;
(12): 409-412, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-294726
ABSTRACT
<p><b>OBJECTIVE</b>To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.</p><p><b>METHODS</b>Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer.</p><p><b>RESULTS</b>Two novel heterozygous mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database (http//www.ncbi.nlm.nih.gov/SNP).</p><p><b>CONCLUSION</b>Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Éxons
/
Povo Asiático
/
Etnologia
/
Fator de Transcrição GATA4
/
Genética
/
Genótipo
/
Defeitos dos Septos Cardíacos
/
Heterozigoto
/
Mutação
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Cardiology
Ano de publicação:
2009
Tipo de documento:
Artigo
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