[Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients].
OBJECTIVE
To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.


METHODS
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.


RESULTS
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).


CONCLUSIONS
Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.
Chen
Ming-wu
MW
Department of Pediatrics, the First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Pang
Yu-sheng
YS
Guo
Ying
Y
Liu
Bing-li
BL
Shen
Jie
J
Song
Huai-dong
HD
Liu
Tang-wei
TW
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D005838:Genotype; D006343:Heart Septal Defects / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D055815:Young Adult
D050991:GATA4 Transcription Factor