Mutation analysis of GATA4 gene in Han Chinese patients with atrioventricular septal defect
10.3969/j.issn.1000-3606.2011.10.001
- VernacularTitle:GATA4基因在汉族先天性房室间隔缺损患者中的突变分析
- Author:
Li ZHANG
;
Jie SHEN
;
Lang YUAN
;
Xiaowei LI
;
Ying GUO
;
Min HUANG
;
Fen LI
- Publication Type:Journal Article
- Keywords:
GATA4 gene;
congenital heart defects;
atrioventricular septal defects;
Down syndrome
- From:
Journal of Clinical Pediatrics
2011;(10):901-905
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutations of GATA4 gene in Han Chinese patients with atrioventricular septal defect(AVSD)and investigate the association between GATA4 gene and pathogenesis. Methods Ninety-four Han Chinese patients with AVSD were recruited,including 23 patients with Down syndrome and 71 patients without. One hundred healthy age-matched Han children were used as the control. Blood samples were drawn. Encoding region and flanking introns of GATA4 gene were amplified using polymerase chain reaction. The mutations were detected by DNA fragment sequences analysis. Results Three novel missense mutations(c.106C ＞ G,p.P36A;c.259C ＞ T, p.P87S;c.504C ＞ A,p.D168E)of the GATA4 gene were identified in three patients with complete AVSD without Down syndrome,and a fourth novel missense mutation(c.1079A ＞ G,p.E360G)was noted in a patient with complete AVSD and Down syndrome. A polymorphism of the GATA4 gene(c.G99T,p.A33A)from six patients was detected. Conclusions The GATA4 gene might be involved in the etiology of AVSD by functional changes resulting from gene mutation. The low incidence of GATA4 gene mutations in patients with AVSD with or without Down syndrome might suggest that AVSD is a polygenetic disorder.
