【摘要】 目的 应用PCR-Single-Stronded conformation poly morphism(PCR-SSCP)技术对先天性软骨发育不全患者进行检测。方法 对3例疑似先天性软骨发育不全患者、1例确诊患者应用基因组DNA聚合酶链反应-单链构象多态技术进行检测。结果 3例疑似患者中2例出现和确诊患者同样的异常泳带，此泳带在正常人中不存在。结论 PCR-SSCP技术可实现对先天性软骨发育不全患者的检测。

    【关键词】 先天性软骨发育不全；聚合酶链反应；单链构象多态

    Detection of achondroplasia by PCR-SSCP

    ZHAO Xin,WU Yu,ZHU Xiao-he.

    【Abstract】 Objective To detection achondroplasia by PCR-SSCP.Methods The genomic DNA from 1 clinically diagnosed achondroplasia patient and 3 suspicious patients with achondroplasia was diagnosed by polymerase chain reaction-restriction fragment length polymorphism(PCR-SSCP).Results 2 in 3 suspicious patients with achondroplasia have the same abnormal band,which does not exist in normal people.Conclusion PCR-SSCP can be usedthe diagnosis of achondroplasia.

    【Key words】 Achondroplasia;Polymerase chain reaction;Single-Stronded conformation poly morphism

    先天性软骨发育不全(achondroplasia ......