| 应用Amp-FLP单体型连锁分析检测Wilson's患者的基因突变 |
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| 引用本文： | 陈悦,佟彤,高文英,宋力,乔丽津.应用Amp-FLP单体型连锁分析检测Wilson''s患者的基因突变[J].天津医药,2003,31(11):704-706. |
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| 作者姓名： | 陈悦 佟彤 高文英 宋力 乔丽津 |
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| 作者单位： | 300074,天津市儿童医院 |
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| 摘 要： | 目的：探讨STR位点变异基因型诊断Wilson’s疾病(wD)的价值。方法：采用Amp—FLP分析方法检测了4个WD患儿及其家系3个位点的基因型。结果：4例先证者均为纯合子，14例家系成员中1例为WD患者，10例为WD基因携带者，2例为正常人，另有1例推断为WD基因携带者。结论：用连锁分析方法检测STR位点，确定相关个体的基因型，方法简便、灵敏、可靠。
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| 关 键 词： | Amp-FLP 检测 Wilson’s 基因突变 肝豆状核变性 扩增片段长度多态性 STR位点 单体型连锁分析 |
Detection of Gene Mutation in Patients with Wilson's disease by Amplified Fragment Length Polymorphism Analysis |
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| CHEN Yue,TONG Tong,GAO Wenying,SONG Li,QIAO LijinTianjin Children's Hospital,Tianjin ,China.Detection of Gene Mutation in Patients with Wilson''s disease by Amplified Fragment Length Polymorphism Analysis[J].Tianjin Medical Journal,2003,31(11):704-706. |
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| Authors: | CHEN Yue TONG Tong GAO Wenying SONG Li QIAO LijinTianjin Children's Hospital Tianjin China |
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| Institution: | CHEN Yue,TONG Tong,GAO Wenying,SONG Li,QIAO LijinTianjin Children's Hospital,Tianjin 300074,China |
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| Abstract: | Objective:To detect the gene mutation in patients with Wilson's disease(WD)by amplified fragment length polymorphism(Amp-FLP)analysis.Methods:The genotypes of 3 STRsites were detected by Amp-FLP in 4 children with WD and their families.Results:The 4 probands were of homozygote.their families(n=14)were patients with WD(n=1),WD gene-carriers(n=10),normal persons(n=2)and predicted WD gene-carriers(n=1).Conclusion:In order to identify the relative genotype,the detection of STRsite by Amp-FLP is a simple,accurate and feasible method. |
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| Keywords: | hepatolenticular degeneration polymorphism restriction fragment length genes mutation |
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