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目的:对2005年至2019年15年来中国单中心的2042个无亲缘关系的杜氏/贝氏肌营养不良(Duchenne/Becker muscular dystrophy, DMD/BMD)家系进行n DMD基因突变回顾性分析，探讨n DMD基因突变在中国汉族人群中的结构特点及相应的期望治疗方案。n 方法:收集2005年1月至2019年8月于本中心就诊的2042个无亲缘关系的DMD/BMD家系，联合应用多重连接探针扩增、二代测序、Sanger测序技术进行n DMD基因突变的检测分析。n 结果:2042个中国汉族DMD/BMD家系中，1986个家系检出突变，56个家系未检出变异，检出率为97.26%(1986/2042)。DMD和BMD分别占78.60%和21.40%，其中包括33名女性先证者。大片段缺失、重复和小突变分别占71.85%，8.76%和19.39%。其中，最常见的外显子缺失和重复类型分别是第45～50外显子缺失和第2外显子重复，在小突变中未发现热点。调查了1595个家庭的DMD家族史，遗传率为58.62%(935/1595)，新发突变率为41.38%(660/1595)。在本研究中，可以通过已有的基因治疗方法缓解症状的患者比例为34.28%(700/2042)。结论:本研究为单中心大样本量的DMD家系突变研究，为97.26%的DMD患者提供了明确分子诊断，为患者家庭的再次生育提供了有效的遗传咨询或产前诊断，丰富了n DMD基因的突变谱，为研究n DMD基因突变机制及探索DMD的治疗奠定了基础。n “,”Objective:To summarize the result of genetic testing and therapeutic prospect of 2042 unrelated Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD) from a single center from 2005 to 2019.Methods:Peripheral blood samples of the pedigrees were collected for the detection of n DMD gene variants with combined multiple ligation-dependent probe amplification (MLPA), next generation sequencing (NGS) and Sanger sequencing.n Results:DMD and BMD have respectively accounted for 78.60% and 21.40% of the pedigrees, which included 33 female probands. Variants of the n DMD gene were detected in 1986 pedigrees (97.26%). Large deletions, duplications and small-scale mutations have respectively accounted for 71.85%, 8.76% and 19.39%. Common deletions and duplications have included deletion of exons 45-50 and duplications of exon 2, while no hot spot was found with small-scale mutations. For 1595 pedigrees affected with DMD, 935 (58.62%) were hereditary and 660(41.38%) were n de novo in origin.Thirty-four point two eight percent (700/2042) of the patients had symptoms which could be relieved by gene therapy.n Conclusion:This has been the largest single-center study of DMD pedigrees, which has attained definite diagnosis in 97.26% of the patients.The results have enabled genetic counseling and prenatal diagnosis for the affected families upon their subsequent pregnancies, enriched the spectrum of n DMD gene variants, as well as facilitated study of the mechanism of n DMD gene mutations and exploration of clinical treatment.n