论文部分内容阅读
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 To investigate whether there is missense mutation of BMP-2 gene in children with pulmonary hypertension caused by congenital heart disease. Methods Sequence analysis of the entire coding region and all the cleavage sites of BMP-2 was performed in 18 children with congenital heart disease with pulmonary hypertension (PAH) and 250 healthy children. Results A potentially significant causative mutation was found in 18 PAH children (c.T326C, p.V109A). This missense mutation is located in the conserved sequence of the BMP-2 gene and its encoded amino acid changes may affect BMP-2 function. Conclusions This study found a potential pathogenic mutation in Chinese children with CHD caused by CHD. BMP-2 gene may be a potential candidate gene for pathogenesis of pulmonary hypertension in Chinese.