國家衛生研究院 NHRI:Item 3990099045/12282
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 12189/12972 (94%)
造访人次 : 955390      在线人数 : 697
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜寻范围 查询小技巧：
  • 您可在西文检索词汇前后加上"双引号"，以获取较精准的检索结果
  • 若欲以作者姓名搜寻，建议至进阶搜寻限定作者字段，可获得较完整数据
    •  进阶搜寻
    主页 ‧ 登入 ‧ 上传 ‧ 说明 ‧ 关于NHRI ‧ 管理 到手机版


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/12282


    题名: In vitro functional analysis of a novel RP2 alleles
    作者: Kao, Y;Fan, W;Chung, R;Lin, W;Tsai, W;Hu, L;Huang, S;Ching, Y
    贡献者: Institute of Population Health Sciences
    摘要: Introduction: Retinitis pigmentosa (RP), a hereditary heterogeneous disease with a prevalence of 1/4000, characterized by the degeneration of photoreceptors leading to progressive loss of vision in patients. We have identi fi ed a three-generation X-linked RP family. Materials and Methods: Eighteen X chromosome microsatellite markers were used to locate disease locus, and one of the Sibling-pairs within the family were used to performed Whole-exome sequencing. Results: The disease locus was mapped between markers DXS1068 and DXS1196. Whole-exome sequencing identifi ed 139 possible SNPs located within the critical diseasescausing intervals. Considering that co-segregation of mutation and genes expression patterns, the RP2_c.102G> A point mutation might be the responsible mutation of this family's disease. It is a novel allele of RP2 gene with allele frequency <1%, and no known functional impact. At protein level the mutation appears to be no functional impact (Lys34> Lys), however, c.102G> A located at the last nucleotide of the splicing donor site of exon1, suggesting that this mutation might cause intron retention at the transcriptional level. A MiniGene assay was designed to validate the functional consequences of this mutation. Conclusion: We have identi fi ed a novel splicing-site mutation of RP2 gene from an X-Link RP family. In vitro functional analysis using MiniGene assay has been performed to verify the functional impact of the mutation.
    日期: 2019-07
    關聯: European Journal of Human Genetics. 2019 Jul;27:68.
    Link to: https://doi.org/10.1038/s41431-019-0404-7
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1018-4813&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000489313100139
    显示于类别:[鍾仁華] 會議論文/會議摘要

    文件中的档案:

    档案 描述 大小格式浏览次数
    ISI000489313100139.pdf129KbAdobe PDF219检视/开启


    在NHRI中所有的数据项都受到原著作权保护.

    TAIR相关文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回馈