Article

[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients].

Department of Pediatrics, the First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases] 05/2009; 37(5):409-12. pp.409-12
Source: PubMed

ABSTRACT To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.
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.
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).
Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.

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Keywords

congenital cardiac septal defects
 
control population
 
ethnical background
 
exon 7
 
GATA-4
 
GATA-4 gene
 
GATA-4 gene mutations
 
Han Chinese patients
 
His28Tyr
 
novel heterozygous mutations
 
patients
 
polymerase chain reaction
 
polymerase chain reaction products
 
SNP database
 
transcription factor GATA-4