目的　探讨活化素受体样激酶1（ALK1）基因、骨形成蛋白Ⅱ型受体（BMPR2）基因突变与儿童特发性肺动 脉高压（IPAH）之间的关系。方法　收集14例临床诊断为IPAH患儿及其部分家族成员的DNA样本，对ALK1、BMPR2 基因启动子及外显子区域进行二代测序，测序结果与GenBank人ALK1、BMPR2基因序列进行分析比对，对存在突变的 基因进行一代测序验证。另收集106例健康儿童作为对照组。结果　1例女性IPAH患儿ALK1基因外显子3发生错义 突变（c.77C>T:p.P26L）；经数据库HMGD查对为一新突变位点。在1例女性患儿BMPR2基因外显子11发现错义突变 （c.1447T>C:p.C483R），1例男性患儿母亲BMPR2基因外显子5 splicing区域发现错义突变（c.621+8T>C），1例女性患儿 母亲BMPR2基因外显子10发现错义突变（c.1322G>A:p.G441E），以上突变在既往文献中均已有报道。结论　在我国汉 族IPAH患儿中首次发现ALK1基因外显子3错义突变，该新错义突变可能和IPAH形成有关。

Objective　To explore the relationship of mutations in activin receptor-like kinase 1 gene (ALK1) and bone morphogenetic protein receptorⅡgene (BMPR2) with childhood idiopathic pulmonary arterial hypertension (IPAH). Methods　The DNA sample from 14 pediatric patients diagnosed clinically of IPAH and some of their family members were collected. The promoters and exons of ALK1 and BMPR2 gene were directly sequenced by the next generation sequencing. The results were compared with the sequence of ALK1and BMPR2 gene in GenBank. The mutant genes were verified by first generation sequencing. One hundred and six healthy children were recruited as controls. Results　A missense mutation in exon 3 of ALK1 gene (c.77C>T:p.P26L) was detected in one female IPAH patient, which is a new mutation site after searching database of HMGD. A missense mutation in exon 11 of BMPR2 (c.1447T>C:p.C483R) was detected in a female patient, a missense mutation in exon 5 of BMPR2 (c.621+8T>C) was detected in a male patient’s mother, and a missense mutation in exon 10 of BMPR2 (c.1322G>A:p.G441E) was detected in a female patient’s mother. These 3 missense mutations had been reported. Conclusions　A missense mutation in exon 3 of ALK1 gene is first discovered in IPAH patient of Han nationality, which may be responsible for the development of IPAH.