Han Zeng-qiang, Chen Yu, Tang Chu-zhong, Gao Wen-gen, Xie Ji-yan, Hu Da-yi
Heart Center, Peking University People's Hospital, Beijing 100044, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2010 Jul;38(7):621-4.
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.
We used polymerase chain reaction (PCR) and the sequencing reaction to detect the mutations on the patients and their parents and (or) siblings.
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.
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.
阐明活化T细胞核因子1（NFATC1）基因IPT-NFAT区域的突变与儿童单纯性先天性心脏病（CHD）之间的关联。
我们采用聚合酶链反应（PCR）和测序反应检测患者及其父母和（或）兄弟姐妹的突变情况。
对第7外显子区域进行PCR扩增显示，58%的CHD患者及其74%的健康父母和（或）兄弟姐妹获得了两条条带。对这两条条带进行测序发现，两条均为第7外显子区域的扩增子，且额外的条带在内含子区域含有一个额外的44个核苷酸片段。该等位基因的纯合形式仅在室间隔缺损患者（2/24）、房间隔缺损患者（3/18）和二叶式主动脉瓣患者（1/4）中出现，在第3个44个碱基对的第17个核苷酸处发现了G到A的转变。无关的非CHD个体以及患有其他CHD的个体均未显示该等位基因纯合形式的阳性存在。
NFATC1第7内含子中的串联重复区域存在差异扩增，且室间隔缺损、房间隔缺损和二叶式主动脉瓣患者存在该等位基因的纯合形式。NFATC1基因可能是室间隔缺损、房间隔缺损和二叶式主动脉瓣的易感标志物。
