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作 者:朴春梅[1] 朱燕[2] 习昕[1] 张陈[2] 杜杰[1] 顾虹[2]
机构地区:[1]首都医科大学附属北京安贞医院-北京市心肺血管疾病研究所心血管重塑相关疾病教育部重点实验室,100029 [2]首都医科大学附属北京安贞医院小儿心内科,100029
出 处:《心肺血管病杂志》2015年第3期228-231,共4页Journal of Cardiovascular and Pulmonary Diseases
基 金:国家自然科学基金(81301797);教育部留学回国人员科研启动基金2013
摘 要:目的:利用目标基因捕获测序技术,对9例肺动脉高压(PAH)患者进行4个已知致病基因突变筛查,探讨利用目标基因捕获测序技术对PAH进行基因诊断的可行性。方法:抽取PAH患者外周血,提取全基因组DNA,制备文库。设计骨形成蛋白2型受体(BMPR2)、激活素受体样激酶1(ACVR1)、细胞内皮糖蛋白(En G),信号蛋白SMAD4基因(SMAD4)外显子区域特异性捕获探计,利用目标基因捕获技术,进行杂交,富集目标基因组区域的DNA片段,利用Illumina Hi Seq 2000进行高通量测序,分析致病基因突变与PAH的相关性。结果:9例患者中,2例患者发现BMPR2基因突变,1例发现ACVRL1突变,BMPR2突变临床症状较重,ACVRL1突变发病年龄较小。结论:本研究利用目标基因捕获测序技术,在9例PAH患者中查出3个致病基因突变。该方法快速有效,可实现对PAH致病基因突变的初步筛查,对PAH的临床基因诊断具有重要价值。Objective:To establish an approach targeted capture and high throughput sequencing technique in order to identify the pathogenic mutations in patients with pulmonary hypertension(PAH) and confirm 4 known genes mutations in the pathogenesis of PAH. Methods: Peripheral blood from 9 PAH patients was col- lected and isolated genomic DNA. A total of 4 known genes of PAH, bone morphogenetic protein receptor, type II ( BMPR2 ), activin A receptor type II-like 1 ( ACVRL1 ), Endoglin ( ENG), SMAD family member 4 (SMAD4) were selected by a gene capture strategy, using GenCap targeted gene capture technology. The enrichment libraries were sequenced on Illumina HiSeq 2000 sequencer to identify the mutation in 4 genes, then further validated by Sanger sequencing. Results: BMPR2 Mutation was detected in 2 out of 9 PAH patients, ACVRL1 mutation detected in 1 out of 9 patients; The patients with BMPR2 mutations (BMPR2 R491W, BM- PR2 V348I) were with more severe clinical phenotype. ACVRL1 R484W mutation was younger with mild phe- notype. Conclusion: Three pathogenic mutations were identified among 9 PAH cases by targeted capture and high throughput sequencing technique. Targeted gene capture and high-throughput sequencing technique could be applied to screen the pathogenic mutations associated with PAH, which may provides a reliable strategy for gene diagnosis of PAH
分 类 号:R543.2[医药卫生—心血管疾病]
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