单位：[1]Departments of Internal Medicine and Gene Therapy Center,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,1095# Jiefang Ave,Wuhan 430030,China华中科技大学同济医学院附属同济医院内科学系[2]Division of Cardiology, the First Affiliated Hospital, Nanjing Medical University, Nanjing, China
Background: Rapidly determining the complex genetic basis of Hypertrophic cardiomyopathy (HCM) is vital to better understanding and optimally managing this common polygenetic cardiovascular disease. Methods: A rapid custom Ion-amplicon-resequencing assay, covering 30 commonly affected genes of HCM, was developed and validated in 120 unrelated patients with HCM to facilitate genetic diagnosis of this disease. With this HCM-specific panel and only 20 ng of input genomic DNA, physicians can, for the first time, go from blood samples to variants within a single day. Results: On average, this approach gained 595628 mapped reads per sample, 95.51% reads on target (64.06 kb), 490-fold base coverage depth and 93.24% uniformity of base coverage in CDS regions of the 30 HCM genes. After validation, we detected underlying pathogenic variants in 87% (104 of 120) samples. Tested seven randomly selected HCM genes in eight samples by Sanger sequencing, the sensitivity and false-positive-rate of this HCM panel was 100% and 5%, respectively. Conclusions: This Ion amplicon HCM resequencing assay provides a currently most rapid, comprehensive, cost-effective and reliable measure for genetic diagnosis of HCM in routinely obtained samples.
基金：
National "973" projectsNational Basic Research Program of China [2012AA02A510, 2013CB531105]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81170159]
第一作者单位：[1]Departments of Internal Medicine and Gene Therapy Center,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,1095# Jiefang Ave,Wuhan 430030,China
共同第一作者：
通讯作者：
通讯机构：[1]Departments of Internal Medicine and Gene Therapy Center,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,1095# Jiefang Ave,Wuhan 430030,China
推荐引用方式(GB/T 7714)：
li zongzhe,huang jin,zhao jinzhao,et al.Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing[J].JOURNAL OF TRANSLATIONAL MEDICINE.2014,12:doi:10.1186/1479-5876-12-173.
APA：
li,zongzhe,huang,jin,zhao,jinzhao,chen,chen,wang,hong...&wang,dao wen.(2014).Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.JOURNAL OF TRANSLATIONAL MEDICINE,12,
MLA：
li,zongzhe,et al."Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing".JOURNAL OF TRANSLATIONAL MEDICINE 12.(2014)
医学