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目的 建立一种简便、可靠的缺失型Duchenne型肌营养不良(DMD)患儿及携带者的基因检测方法,为DMD产前诊断的开展奠定基础。方法 首先采用1 8对引物多重PCR反应体系,确定2 0 0 1年3月至2 0 0 4年8月就诊于中国医科大学附属第二医院遗传门诊的48例DMD患儿dystrophin基因缺失情况,然后应用定量PCR方法对1 5例缺失型患儿母亲进行携带者检测。结果 48例DMD患儿中2 5例存在基因缺失,缺失率52 % ( 2 5/ 4 8) ,共涉及1 2个外显子,主要集中在44～52外显子,其中外显子49和50缺失频率最高;1 5例缺失型患儿母亲中检出8例携带者,其中肯定携带者检出率1 0 0 % ( 4 / 4 ) ,可疑携带者检出率3 6% ( 4 / 1 1 )。结论 多重PCR结合定量PCR方法能有效地检出缺失型DMD患儿及携带者,可为产前诊断提供十分重要的信息。
Objective To establish a simple and reliable method for genetic testing of children with and without Duchenne muscular dystrophy (DMD) and to lay the foundation for the prenatal diagnosis of DMD. Methods Firstly, 18 pairs of primer multiplex PCR reaction system were used to determine the deletion of dystrophin gene in 48 DMD patients attending the genetic clinic of the Second Affiliated Hospital of China Medical University from March 2001 to August 2004. Quantitative PCR method was then used to detect carriers of 15 mothers with missing type. Results Twenty-five cases of DMD had gene deletion and deletion rate of 52% (25/48), involving 12 exons in total, mainly in 44 to 52 exons, of which 49 And 50 had the highest frequency of deletion. Among the 15 missing mothers, 8 carriers were detected, of which 10% (4/4) were positive carriers and 36% (4%) were suspicious carriers / 1 1). Conclusion Multiplex PCR combined with quantitative PCR method can effectively detect children and carriers of missing DMD, which can provide very important information for prenatal diagnosis.