English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 6507/11669
造訪人次 : 29734169      線上人數 : 499
RC Version 3.2 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜尋範圍 進階搜尋

請使用永久網址來引用或連結此文件: http://ir.ncue.edu.tw/ir/handle/987654321/11491

題名: Prenatal Prediction of Spinal Muscular Atrophy in Chinese
作者: Lin, Shuan-Pei;Chang, Jan-Gowth;Jong, Yuh-Jyh;Yang, Tzu-Yao;Tsai, Chang-Hai;Wang, Nancy M.;Li, Hung;Hsieh-Li, Hsieh-Mei;Hu, Cheur-Jong
貢獻者: 生物技術研究所
關鍵詞: Prenatal;SMA;Non-isotope SSCP;Chinese
日期: 1999-07
上傳時間: 2012-06-06T02:03:28Z
出版者: John Wiley & Sons, Inc.
摘要: We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA). A total of 26 cases from 20 SMA families (16, type 1 and 4) were evaluated. 5 out of 26 fetuses were affected and, following genetic counselling, the parents decided to terminate the pregnancies. Aborted fetal tissues were examined and the diagnosis was confirmed in each case. The 21 unaffected cases were either normals (12 cases) or carriers (9 cases). These children have been followed for six months to two and a half years. No false-negative or false-positive results on prenatal testing were found. We conclude that prenatal diagnosis of SMA is reliable and accurate.
關聯: Prenatal Diagnosis, 19(7): 657-661
顯示於類別:[生物技術研究所] 期刊論文

文件中的檔案:

檔案 大小格式瀏覽次數
index.html0KbHTML624檢視/開啟


在NCUEIR中所有的資料項目都受到原著作權保護.

 


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