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目的假肥大性肌营养不良(Duchenne/Becker muscular dystrophy,DMD/BMD)是一种X-连锁隐性遗传病,是由dystrophin基因突变引起的,目前没有有效的治疗方法,希望异基因造血干细胞移植治疗能够修复dystrophin基因。方法收集9例DMD造血干细胞移植病例,从外周血白细胞中抽提移植前后基因组DNA,应用多重连接依赖探针扩增(Multiplex ligation-dependent probe amplification,MLPA)技术对9例DMD患者进行造血干细胞移植前后DMD基因检测,用短串联重复序列(Short tandem repeats,STR)技术对MLPA检测结果进行验证。结果 MLPA试剂盒P034-A2/P035-A2检测9例患者造血干细胞移植前外周血标本均存在外显子缺失,移植后缺失的外显子修复,其中2例患者造血干细胞移植前肌肉标本均存在外显子缺失,移植后缺失的外显子部分修复。结论 MLPA技术更加简便、快捷、可靠对DMD/BMD患者造血干细胞移植移植前后DMD基因进行分析,为遗传病造血干细胞移植后是否植入提供另一可靠依据,异基因造血干细胞移植能修复DMD缺失的基因。
Objective Duchenne / Becker muscular dystrophy (DMD / BMD) is an X-linked recessive disease caused by mutations in dystrophin gene. There is no effective treatment for this condition. We hope that allogeneic hematopoietic stem cell transplantation Treatment can repair the dystrophin gene. Methods Nine cases of DMD hematopoietic stem cell transplantation were collected. Genomic DNA was extracted from peripheral blood leukocytes before and after transplantation. Nine patients with DMD were treated with hematopoietic stem cell transplantation (MLPA) by multiplex ligation-dependent probe amplification (MLPA) Before and after DMD gene test, short tandem repeats (STR) technique was used to test the MLPA results. Results There were exon deletions in all the 9 peripheral blood samples of hematopoietic stem cell transplantation before and after MLPA kit P034-A2 / P035-A2, and the exon repaired after transplantation. The muscle samples of 2 patients before hematopoietic stem cell transplantation were all existed Deletion of exon, deletion of exon after partial repair. Conclusions MLPA technique is more simple, quick and reliable to analyze DMD gene in patients with DMD / BMD before and after hematopoietic stem cell transplantation and provide another reliable basis for hematopoietic stem cell transplantation after hereditary disease. Allogeneic hematopoietic stem cell transplantation can repair DMD deletion gene.