Dong Han-Quan, Du Yue-Xin
Department of Pneumology, Tianjin Children's Hospital, Tianjin, 300074-China.
Department of Child Healthcare, Tianjin Municipal Women and Children health care center, Tianjin, 300070, China.
Rev Assoc Med Bras (1992). 2019 Jul 22;65(6):786-790. doi: 10.1590/1806-9282.65.6.786.
This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population.
A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population.
One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls.
We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.
本研究旨在评估位于两个区域（法洛四联症和室间隔缺损）的两个基因（PRKAB2和PPM1K）的拷贝数变异在中国汉族人群中的遗传关联性。
共招募了200例先天性心脏病患者（100例法洛四联症患者和100例室间隔缺损患者）以及100例无先天性心脏缺陷的对照者，并采用定量实时PCR分析在中国汉族人群中重复验证两个拷贝数变异与先天性心脏缺陷的关联性。
在两名法洛四联症患者中分别发现了PRKAB2基因的一个缺失和PPM1K基因的一个重复；而在室间隔缺损患者和100例无先天性心脏缺陷的对照者中，所有这些区域均为重复状态。
我们在中国汉族人群中重复验证了PRKAB2和PPM1K这两个疾病候选基因的拷贝数变异与法洛四联症的关联性，且在室间隔缺损患者中未发现这两个基因的突变。这些结果表明这两个基因在不同种族中存在相同的分子群体遗传学特征。这表明这两个基因可能是法洛四联症的特异性候选基因。
