X-连锁进行性肌营养不良症(附Becker型肌营养不良一家系基因诊断)

目的 应用分子遗传学方法对患者在基因水平上作出诊断。方法 应用dystrophin cDNA 14kb探针（包括6个亚探针1－2a,2b-3,4-5a,5b-7,8,9-14)与1名18岁的临床表现温和肌营养不良患者及2例对照者1例正常25岁男性及1例12岁DMD（Duchenne muscular dystrophy)患者]的基因组DNA／HindⅢ片段进行Southern印记分析。结果 患者在亚探针5b-7杂交中，发现其1.5kb,0.5kb杂交带缺失，在与亚探针8杂交中，发现10．0kb杂交带缺失。DMD对照者在与5b-7杂交中，发现0．5kb杂交带缺失。正常对照者在与全部探针杂交中，未发现杂交带缺失。结论 这三个Hd片段分别含有基因的45，46，47号外显子,证明患者缺失了45，46，47号外显子，故诊断该患者为Becker型肌营养不良，从而为该家系的遗传咨询获得了可靠的资料。

X-LINKED MUSCULAR DYSTROPHY (GENE DYAGNOSIS OF A CASE OF FAMILIAL BECKER MUSCULAR DYSTROPHY)

ObjectiveTo diagnose a case of familial Becker musculae dystrophy (BMD) by molecular biological technique.MethodsGenomic DNA/Hind III fragments of a 18 year old mild BMD patiend and 2 controls a 25 year old normal,and a 12 year old Duchenne muscular dystrophy (DMD)]were hybridezed with dystrophin cDNA 14kb probes(including 6 subprobes 1 2a,2b 3,4 5a,5b 7?8?9 4).ResultsBMD patient's fragments were hybridized with subprobes 5b 7,8,there were 2 fragments deletion of 1.5 kb, 0.5 kb bands in hybridization and fragment deletion of 10.0 kb band respectively.DMD patient's fragments were hybridized with subprobes 5b 7,there was 1 fragmenet deletion of 0.5 kb band.The normal man's fragments were hybridized with all subprobes,there was not fragmenet deletion.ConclusionThese three Hd fragments included exons 45,46,47 of dystrophin gene.The diagnosis of BMD could be made because the patient was proved being deleted exons 45,46,47.This method provided utilization valuable information in the Genetic Counseling for patient's families.