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目的应用PCR-Single-Stronded conformation polymorphism(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。
Objective To detect patients with congenital achondroplasia by PCR-Single-Stronded conformation polymorphism (PCR-SSCP). Methods Three cases of suspected congenital achondroplasia and one case of diagnosed patients were detected by genomic DNA polymerase chain reaction - single strand conformation polymorphism. Results In 3 of the 3 suspected patients, the same abnormal zone was detected in 2 patients, which was not found in normal subjects. Conclusion PCR-SSCP can detect patients with congenital achondroplasia.