BMP-2基因在先心病肺动脉高压患儿中的突变研究

Bone morphogenetic proteins 2(BMP-2)mutations in Chinese children with Pulmonary arterial hypertens caused by congenital heart defect

目的研究先天性心脏病引起的肺动脉高压中国患儿中是否存在BMP-2基因的错义突变。方法在18个先心病肺动脉高压(PAH)患儿及250个健康儿童中,对BMP-2的整个编码区及所有剪切位点进行序列分析。结果在18个PAH患儿中发现了一个有意义的潜在的致病突变(c.T326C,p.V109A)。该错义突变位于BMP-2基因的保守序列,其编码的氨基酸改变可能影响BMP-2功能。结论本实验在先心病引起的肺动脉高压中国患儿中发现了一个潜在的致病突变,BMP-2基因可能是中国人肺动脉高压发病过程的一个潜在候选基因。

Objective：The aim of this study was to identify potential pathological mutations in the BMP-2 gene in Chinese children with pulmonary artery hypertension（PAH）caused by congenital heart disease（CHD）. Methods：Sequence analysis of the entire coding region and all splice site of BMP-2 gene were performed in 18 PAH patients caused by CHD and 250 healthy controls. Results：We discovered one novel potential pathogenic variant（c. T326 C,p. V109A）in 18 PAH patients. This missense mutation was located in the BMP-2 conserved residue and the amino acid change may affect the function of BMP-2. Conclusions：The present study identified a potential pathogenic variation in Chinese PAH patients caused by CHD. BMP-2 gene is a possible potential candidate gene in PAH development in Chinese population.