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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Exons
/
Asiatiques
/
Ethnologie
/
Facteur de transcription GATA-4
/
Génétique
/
Génotype
/
Malformations des cloisons cardiaques
/
Hétérozygote
/
Mutation
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Cardiology
Année:
2009
Type:
Article
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