Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa
文献类型：期刊论文
| 作者 | Li, Shujin4,5,6; Yang, Mu4,5,6; Liu, Wenjing5; Liu, Yuqing5; Zhang, Lin5; Yang, Yeming5; Sundaresan, Periasamy3; Yang, Zhenglin5,6; Zhu, Xianjun1,2,5 |
| 刊名 | GENETIC TESTING AND MOLECULAR BIOMARKERS
 |
| 出版日期 | 2018-02-01 |
| 卷号 | 22期号:2页码:109-114 |
| 关键词 | targeted NGS RP1 autosomal recessive retinitis pigmentosa |
| ISSN号 | 1945-0265 |
| DOI | 10.1089/gtmb.2017.0223 |
| 产权排序 | 1 |
| 文献子类 | Article |
| 英文摘要 | Background: Retinitis pigmentosa (RP) is a group of rare inherited retinal dystrophies that result in a progressive loss of vision. Molecular diagnosis of RP is difficult due to its phenotypic and genetic heterogeneities. Aims: To investigate causative genetic mutations in a collection of RP cases: one Indian and two Chinese families with autosomal-recessive RP and two sporadic patients with RP. Materials and Methods: A total of 163 genes, which have previously been found to be involved in inherited retinal disorders, were selected for targeted next-generation sequencing (NGS). Stringent NGS data analyses followed by confirmation using Sanger sequencing and segregation analyses were applied to evaluate all identified pathogenic mutations. Results: Four novel frameshift mutations and two compound heterozygous mutations were identified in RP1. In addition, all mutations were found to co-segregate with the disease in the three familial cases; none of the mutations were detected in control samples. Conclusion: This study expands the mutational spectrums of RP1 for RP. |
| 学科主题 | Research ; Laboratory Medicine ; Medical Technology |
| URL标识 | 查看原文 |
| WOS关键词 | FAMILIAL EXUDATIVE VITREORETINOPATHY ; GENOTYPE-PHENOTYPE CORRELATION ; ANALYSIS IDENTIFIES MUTATIONS ; GENE ; DYSTROPHY ; PROTEIN |
| WOS研究方向 | Biochemistry & Molecular Biology ; Genetics & Heredity |
| 语种 | 英语 |
| WOS记录号 | WOS:000424707900006 |
| 出版者 | MARY ANN LIEBERT, INC |
| 源URL | [http://210.75.237.14/handle/351003/30343]  |
| 专题 | 国家天然药物工程技术研究中心_天然产物研究 |
| 作者单位 | 1.Institute of Laboratory Animal Sciences, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu,Sichuan, P.R. China.; 2.Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, P.R. China. 3.Aravind Eye Hosp, Dept Genet, Aravind Med Res Fdn, Madurai, Tamil Nadu, India; 4.Univ Chinese Acad Sci, Beijing, Peoples R China; 5.Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu 610072, Sichuan, Peoples R China; 6.Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Li, Shujin,Yang, Mu,Liu, Wenjing,et al. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS,2018,22(2):109-114. |
| APA | Li, Shujin.,Yang, Mu.,Liu, Wenjing.,Liu, Yuqing.,Zhang, Lin.,...&Zhu, Xianjun.(2018).Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.GENETIC TESTING AND MOLECULAR BIOMARKERS,22(2),109-114. |
| MLA | Li, Shujin,et al."Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa".GENETIC TESTING AND MOLECULAR BIOMARKERS 22.2(2018):109-114. |
入库方式： OAI收割
来源：成都生物研究所
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