刘玉阁 戴志华 谢丙 300052 天津医科大学总医院神经病学研究所 中华神经科杂志 1998 0 31 4


    关键词：肌营养不良症；DNA印迹法；多重聚合酶链反应 期刊 zhsjkzz 0 *论著* fur -->


    

【摘要】 目的 分析迪谢内/贝克肌营养不良症(DMD/BDM)基因缺失类型及其分布规律。方法 采用全长cDNA探针和18对引物多重聚合酶链反应(mPCR)检测138例DMD/BMD。结果 用全长cDNA探针,DNA印迹法检测出86例患者基因缺失和4例重复,缺失率为62.3%。用18对引物mPCR检测出82例缺失,占全长cDNA探针检出缺失的95.4%。结论 基因缺失的分布具有一定的规律性。86例缺失主要集中在两个缺失热区内,其中59例(68.6%)分布于外显子44～52,相当于cDNA8和7的3′端4个外显子覆盖的区域内。23例缺失(26.7%)分布于5′端外显子1～19,相当于探针1～2a和2b～3的检测区域内。仅4例(4.7%)缺失分布于基因的中心区。基因缺失的类型及分布与表型有一定关系。

    The distribution of gene deletions in Duchenne/Beckermuscular dystrophy Liu Yuge, Dai Zhihua, Xie Bingdi. Department of Neurological Research Institute, Tianjin Medical University GeneralHospital, Tianjin, 300052

    【Abstract】 Objective To analyse thelocations and types of gene deletions in Duchenne/Becker muscular dystrophy(DMD/BMD).Methods 138 patients of DMD/BMD were screened withthe complete cDNA probes and multiplex polymerase chain reaction (mPCR) amplification of18 pairs oligonucleotide primers. Results 86deletions and 4 duplications were detected, the deletion frequency is 62.3%. 82 deletionswere detected with 18 paris primers, which is 95.4% of deletions detected by complete cDNAprobes. Conclusions 86 deletions of dystrophin genewere clustered mainly in two high-frequency deletion regions, 59 cases(68.6%) located inthe region of exons 44～52 corresponding to the areacovered by the four exons in 3′ side of cDNA 7 andcDNA 8; 23 cases(26.7%) were in exons 1～19 of 5′ side corresponding to the area covered by the probes 1～2a and 2b～3; 4 cases(4.7%)were in the region covered by probe 4～5a in centralregion of the gene. The locations and types of deletion in dystrophin gene are associatedwith the phenotype of DMD/BMD.

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