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学科主题: 临床医学
题名:
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing
作者: Zhao, Lin1; Yang, Liping1; Cui, Hui2; Yin, Xiaobei2; Dou, Hongliang1; Chen, Ningning1; Zhang, Jinlu1; Zhang, Huirong1; Li, Genlin2; Ma, Zhizhong1
刊名: PLOS ONE
发表日期: 2015-10-23
DOI: 10.1371/journal.pone.0140684
卷: 10, 期:10
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: DOMINANT RETINITIS-PIGMENTOSA ; RETINAL DYSTROPHIES ; RHODOPSIN GENE ; MUTATIONS ; FAMILIES ; IDENTIFICATION
英文摘要:

Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensive, rapid, and cost-effective clinical molecular diagnosis of RP. A specific hereditary eye disease enrichment panel (HEDEP) based on exome capture technology was used to collect the protein coding regions of 371 targeted hereditary eye disease genes, followed by high-throughput sequencing on the Illumina HiSeq2000 platform. From a cohort of 34 Chinese RP families, 13 families were successfully diagnosed; thus, the method achieves a diagnostic rate of approximately 40%. Of 16 pathogenic mutations identified, 11 were novel. Our study demonstrates that targeted capture sequencing offers a rapid and effective method for the molecular diagnosis of RP, which helps to provide a more accurate clinical diagnosis and paves the way for genetic counseling, family planning, and future gene-targeted treatment.

语种: 英语
所属项目编号: 81170877 ; 81470666 ; BYSY2014004 ; 2014-MB-20
项目资助者: National Natural Science Foundation of China ; clinical Key Project of Peking University Third Hospital ; Seeding Grant for Medicine and Life Sciences of Peking University ; Peking University
WOS记录号: WOS:000363309200027
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50055
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: 1.Peking Univ, Key Lab Vis Loss & Restorat, Hosp 3, Dept Ophthalmol,Minist Educ, Beijing 100871, Peoples R China
2.Capital Med Univ, Beijing Tongren Hosp, Beijing Tongren Eye Ctr, Beijing, Peoples R China

Recommended Citation:
Zhao, Lin,Yang, Liping,Cui, Hui,et al. Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing[J]. PLOS ONE,2015,10(10).
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