应用荧光定量PCR检测缺失型DMD携带者的研究

Detection deleted Duchenne muscular dystrophy carriers by fluorescence quantitative polymerase chain reaction.

目的 建立荧光定量PCR技术检测缺失型DMD携带者。方法 应用 9对引物扩增抗肌萎缩蛋白缺失热点区域 ,检测出常见的缺失型DMD患儿 17例。用SYBRGreenⅠ荧光定量PCR技术对缺失型DMD患儿家系中 2 1例女性亲属进行检测。结果 1例肯定携带者、11例可疑携带者和 3例可能携带者证实为携带者 ;5例可疑携带者和 1例可能携带者被排除。结论 SYBRGreenⅠ荧光定量PCR技术是一种检测缺失型DMD携带者的准确、快速、简便的方法。

Objective: To development a method of fluorescence quantitative PCR to detect carriers in the families of deleted Duchenne muscular dystrophy. Method: The PCR with 9 pairs of primer was used to identify the possible deleted exons in the patients with DMD, 17 deleted cases were diagnosed. Then, using SYBR Green I Fluorescence Quantitative Polymerase chain reaction to detect 21 female relatives in these deleted families. Results: 15 cases female relatives were determined to be carriers (including 1 obligated deleted carrier, 11 presumptive carriers and 3 possible carriers), 5 presumptive carriers and 1 possible carriers were excluded as the carriers.Conclusions: SYBR Green I Fluorescence Quantitative Polymerase chain reaction is a precise, rapid and convenient method to detect deleted DMD carriers.