Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children
10.3760/cma.j.issn.0253-3758.2010.07.012
- VernacularTitle:单纯性先天性心脏病NFATC1基因突变筛查
- Author:
Zeng-Qiang HAN
1
;
Yu CHEN
;
Chu-Zhong TANG
;
Wen-Gen GAO
;
Ji-Yan XIE
;
Da-Yi HU
Author Information
1. 北京大学人民医院
- Keywords:
Heart defects,congenital;
Mutation;
Genes
- From:
Chinese Journal of Cardiology
2010;38(7):621-624
- CountryChina
- Language:Chinese
-
Abstract:
Objective To elucidate association between the mutation of nuclear factor of activated T cells 1 ( NFATC1 ) gene in IPT-NFAT region and simple congenital heart disease (CHD) in children. Method We used polymerase chain reaction (PCR) and the sequencing reaction to detect the mutations on the patients and their parents and (or) siblings. Results PCR amplification of the exon 7 region showed that 2 bands are obtained in 58% of patients with CHD and in 74% of their healthy parents and (or) siblings. Sequencing of the 2 bands revealed that both are amplicons of the exon 7 region, and that the additional band harbors an additional 44 nucleotides segment in the intronic region. The homozygous form of this allele was only present in patients with ventricular septal defect (2/24), atrial septal defect (3/18) and bicuspid aortic valve (1/4) in which G to A transition at nucleotide 17 of the third 44 bps was found. Neither the unrelated non-CHD individuals nor the ones with other CHD showed positive presence for the homozygous form of this allele. Conclusions There is a differential amplification of a tandem repeat region in intron 7 of NFATC1 and homozygous form of this allele in patients with ventricular septal defect, atrial septal defect and bicuspid aortic valve. NFATC1 gene may be an a susceptibility marker for ventricular septal defect, atrial septal defect and bicuspid aortic valve.
