國家衛生研究院 NHRI:Item 3990099045/2539
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 12145/12927 (94%)
造访人次 : 914657      在线人数 : 1397
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/3990099045/2539


    题名: Identification of a new single-nucleotide mutation on the hypoxanthine-guanine phosphoribosyltransferase gene from 983 cases with gout in Taiwan
    作者: Wu, CH;Lai, HM;Yang, MC;Liaw, CC;Chang, SJ;Ko, YC;Chen, CJ
    贡献者: Division of Environmental Health and Occupational Medicine
    摘要: Objective. The frequency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency within the gout-affected population in Taiwan was unclear. We evaluated its frequency and sought to identify a new genetic variation in a case with HPRT deficiency. Methods. From 2004 to 2005, a total of 983 patients with gout were followed among outpatients attending the Department of Rheumatology. Among these, 12 cases were suspected to have HPRT deficiency, and HPRT activity was examined by HPLC. In the index case found to have HPRT deficiency, genetic variation was analyzed by RT-PCR, direct sequencing, and SSCP. Results. Only a single case proved to have partial HPRT deficiency among 12 suspicious cases. Both cDNA and genomic DNA analysis identified a new mutation on exon 2 with T to G transition at cDNA base 93, resulting in a change from aspartic acid to glutamic acid at position 31. It was designated as HPRTChia-Yi, from our case's residence at Chia-Yi Hsein, Taiwan. Conclusion. According to this hospital-based survey, HPRT deficiency is a rare trait in the Taiwanese gouty population. However, our index case with HPRT deficiency provided the first proven HPRT mutation in non-aboriginal Taiwanese patients with gout, which was different from a mutation previously found in aboriginal Taiwanese. Hence, in non-aboriginal Taiwanese gouty patients with HPRT deficiency, exon 2, rather than just exon 3, should be analyzed.
    关键词: Rheumatology
    日期: 2007-04
    關聯: Journal of Rheumatology. 2007 Apr;34(4):794-797.
    Link to: https://www.jrheum.org/content/34/4/794
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0315-162X&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000245830900024
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=34247394668
    显示于类别:[葛應欽(2003-2009)] 期刊論文

    文件中的档案:

    档案 描述 大小格式浏览次数
    ISI000245830900024.pdf485KbAdobe PDF156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