ASIA unversity:Item 310904400/8324
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 94286/110023 (86%)
造访人次 : 21696796      在线人数 : 765
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


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/8324


    题名: Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system
    作者: Shaw, SW (Shaw, Sheng-Wen);Cheng, PJ (Cheng, Po-Jen);Chang, SD (Chang, Shuenn-Dhy);Lin, YT (Lin, Yu-Ting);Hung, CC (Hung, Chia-Cheng);Chen, CP (Chen, Chih-Ping);Su, YN (Su, Yi-Ning)
    贡献者: Department of Biotechnology
    关键词: spinal muscular atrophy;prenatal diagnosis;DHPLC;QUANTITATIVE-ANALYSIS;SMN1 DELETION;COPY NUMBER;GENE;CARRIER;IDENTIFICATION;DOSAGE;PCR;SMA
    日期: 2008
    上传时间: 2010-03-26 02:29:49 (UTC+0)
    出版者: Asia University
    摘要: Objective. Use of Denaturing High-Performance Liquid Chromatography (DHPLC) in prenatal diagnosis of spinal muscular atrophy (SMA). Methods. Thirty-three members of 7 families participated in carrier test and disease detection of SMA. Prenatal genetic diagnosis was performed if both parents were carriers or any family members had SMA. DNA extracted from blood, chorionic villi and amniotic fluid was amplified and used for DHPLC. Results. Twenty SMA carriers, seven SMA affected cases, and six normal individuals were identified. SMA status was demonstrated by genotyping and total copy number determinations of SMN1 and SMN2. Families 1-3 were classified as group one (SMA affecting previously born child). Group two, comprising families 4 and 5, had lost a child due to an unknown muscular disease. Group three (SMA-affected parent) comprised families 6 and 7; carrier testing was done. DHPLC prenatal genetic diagnosis was made in seven pregnancies, one in each family (affected, n = 2; carrier, n = 3; normal, n = 2). Pregnancy was terminated for the two affected fetuses. The others were delivered uneventfully and SMA free. Conclusion. DHPLC prenatal diagnosis of SMA and determination of SMA status in adults is possible, and SMN1 and SMN2 copy numbers can be determined.
    關聯: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA 87 (9): 960-968
    显示于类别:[生物科技學系] 期刊論文

    文件中的档案:

    档案 描述 大小格式浏览次数
    219.doc37KbMicrosoft Word212检视/开启
    index.html0KbHTML414检视/开启


    在ASIAIR中所有的数据项都受到原著作权保护.

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