Amp-FLP连锁分析法应用于Wilson病的产前基因诊断

PERNATAL GENE DIANOSIS OF WILSON DISEASE BY AMP - FLP LINKAGE ANALYSIS

  • 摘要: 为探索对Wilson病产前基因诊断的方法,应用13号染色体上3个STR位点的扩增片段长度多态性(Amp-FLP)为遗传标记,对3个WD家系进行产前诊断,结果2个胎儿为致病基因携带者,1个胎儿为患者。表明以这3个多态位点为遗传标记,能快速、简便、准确地对该病进行产前诊断。

     

    Abstract: We aimed at the methed for prenatal diagnosis of Wilan disease. Three Amp - FLP polymorphic sites on chromosome 13 were used as genetic markers. Haplotype segregation analysis were carried out in prenatal diagnosis of three WD families. It is concluded that 2 feus are carriers, and 1 fetus is WD patient. The result suggests that using these intragenis markers allows rapid, easy and accurate analysis and prenatal diagnosis in WD families .

     

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