A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes
A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes
复制标题
DOI：
10.1007/s00408-015-9736-4
复制
发表时间：
2015-08-01
期刊：
影响因子：
5
通讯作者：
Coto, Eliecer
中科院分区：
文献类型：
--
作者：
Gomez, Juan;Reguero, Julian R.;Coto, Eliecer
这项研究的目的是通过下一代测序平台来表征肺动脉高压(PH)患者的突变谱。用半导体芯片和离子激流个人基因组测序机对22例患者的BMPR2、SMAD9、CAV1、KCNK3和EIF2AK4基因进行了测序。我们在5例患者中发现了SMAD(p.R263Q)、BMPR2(p.S301P，p.T493I)、CAV1(p.V155I)和EIF2AK4(p.L489P，p.P1115L)的6个可能的突变。1例为BMPR2复合杂合子。Smad突变，1例为EIF2AK4p.P1115L纯合子。报道的程序将有助于对大量PH患者进行快速突变筛查。
The aim of this study was to characterize the mutational spectrum of pulmonary hypertension (PH) patients through a next generation sequencing platform. In a total of 22 patients, the BMPR2, SMAD9, CAV1, KCNK3, and EIF2AK4 genes were sequenced with semiconductor chips and the ion torrent personal genome machine. We found six putative mutations in SMAD (p.R263Q), BMPR2 (p.S301P, p.T493I), CAV1 (p.V155I), and EIF2AK4 (p.L489P, p.P1115L) in five patients. One patient was compound heterozygous for BMPR2 ? SMAD mutations, and one patient was homozygous for EIF2AK4 p.P1115L. The reported procedure would facilitate the rapid mutational screening of large cohorts of PH patients.