Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients.
- Author:
Ming-wu CHEN
1
;
Yu-sheng PANG
;
Ying GUO
;
Bing-li LIU
;
Jie SHEN
;
Huai-dong SONG
;
Tang-wei LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; ethnology; Child; Child, Preschool; Exons; Female; GATA4 Transcription Factor; genetics; Genotype; Heart Septal Defects; ethnology; genetics; Heterozygote; Humans; Infant; Male; Mutation; Young Adult
- From: Chinese Journal of Cardiology 2009;37(5):409-412
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.
METHODSFifty 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.
RESULTSTwo 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).
CONCLUSIONOur finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.
