National Changhua University of Education Institutional Repository : Item 987654321/11491
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题名: 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
贡献者: 生物技術研究所
关键词: Prenatal;SMA;Non-isotope SSCP;Chinese
日期: 1999-07
上传时间: 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
显示于类别:[生物技術研究所] 期刊論文

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