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
en Zh
| WPRIM
| ID: wpr-294726
Biblioteca responsable:
WPRO
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>
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Asunto principal:
Exones
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Pueblo Asiatico
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Etnología
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Factor de Transcripción GATA4
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Genética
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Genotipo
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Defectos de los Tabiques Cardíacos
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Heterocigoto
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Mutación
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Cardiology
Año:
2009
Tipo del documento:
Article