定量PCR检测缺失型DMD/BMD携带者的研究

Carrier detection of Duchenne and Becker muscular dystrophy by quantitative multiplex PCR

  • 摘要: 目的: 研究DMD/BMD携带者临床诊断的有效手段。方法: 运用双重定量PCR及剂量系数分析,检测26例正常对照,7例肯定携带者和21例可疑携带者,部分结果与短片段重复顺序多态性方法及CK值作了比较。结果: 确定了判定参考标准,可疑携带者中,患儿母亲检测阳性率为57.9%,8例经短串联重复顺序多态性分析,得到了完全验证。结论: 定量PCR检测DMD/BMD携带者快速、敏感、准确,可在临床诊断中应用。

     

    Abstract: Objective: To study the efficient、fast and simple method to be used in the carrier detections of DMD/BMD. Methods: We developed the method of duplex quantitative PCR approach and DQ value to detecte deletion carriers of DMD/BMD. Parts of the results were compared with Short Tandem Repeat sequence PCR (STRs PCR) method and CK value. Results: We determined the normal and abnormal reference value with analyses of 7 obligated deletion carriers, 21 possible carriers and 26 normal female controls, and found entire coordinate in 8 female relatives whose status had been determined by STRs analysis. It has been shown that quantitative PCR is more sensitive than that of CK value. Conclusion: The quantitative duplex PCR assay is suitable for routine application.

     

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