骨形成蛋白Ⅱ型受体基因R491W突变导致家族性原发性肺动脉高压

Bone Morphogenetic Protein Receptor-ⅡGene R491W Mutation Results in Familial Primary Pulmonary Hypertension

目的 :验证骨形成蛋白Ⅱ型受体 (BMPR2 )基因突变是否能导致中国汉族人家族性原发性肺动脉高压 (PPH)。 方法 :对一个独立的家族性PPH家系和 1 0例散发患者及 1 0 0例正常人进行BMPR2基因突变扫描 ,外周血白细胞中提取基因组脱氧核糖核酸 (DNA) ,聚合酶链反应扩增BMPR2基因 1～ 1 3号外显子 ,自动测序仪检测突变。 结果 :此家系先证者BMPR2基因第 4 91密码子位置发生C→T转换 ,使精氨酸 (R)变为色氨酸 (W)。家系中另两例患者也携带此突变 ,而其他家系成员和散发病例以及正常人均未发现BMPR2基因 1～ 1 3号外显子的异常改变。 结论 :BMPR2基因R4 91W错义突变能导致家族性PPH ,这与国外研究结果一致。

Objective:To investigate whether the bone morphogenetic protein receptor Ⅱ(BMRP2)gene mutation can cause primary pulmonary hypertension(PPH)in Chinese Han nationality. Methods:One Chinese family with PPH and 10 sporadic cases of PPH were recruited in the study.Exons 1 13 of the BMPR2 gene were amplified with polymerase chain reaction(PCR)method and the PCR products were sequenced with ABIPRISM377(PE). Results:The transversion of C to T at codon 491 in the BMPR2 gene made the arginine acid(R)converted into tryptophan(W)in the proband.The probands brother and one daughter suffered from PPH as well.No mutation was identified in exon 1 13 of BMPR2 gene in normal family members,sporadic cases or controls. Conclusions:The missense mutation of R491W is the cause of primary pulmonary hypertension in this family.