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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dystrophincDNA 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 2 5岁男性及 1例 12岁DMD(Duchennemusculardystrophy)患者 ]的基因组DNA/HindIII片段进行Southern印记分析。结果患者在与亚探针 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 4 5 ,4 6,4 7号外显子 ,证明患者缺失了 4 5 ,4 6,4 7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
Objective To apply molecular genetics to diagnose patients at the genetic level. Methods The dystrophincDNA 14kb probe (including 6 subproblems 1 2a, 2 b 3, 4 5a, 5 b 7, 8, 9 14) and one 18-year-old clinical patient with mild muscular dystrophy and 2 controls Cases of normal 25-year-old male and 1 case of patients with Duchenne muscular dystrophy at the age of 12] were subjected to Southern blot analysis. Results In the hybridization with sub-probe 5b 7, the 1.5kb and 0.5kb hybridization bands were found to be deleted. In the hybridization with sub-probe 8, a 10-kb hybridization band was found to be deleted. In DMD controls, the 0.5 kb hybridization band was found to be missing in the hybridization with 5b 7. In normal controls, no hybridization band deletion was found in the hybridization with all the probes. Conclusion These three Hd fragments contain exon 45, 46, 47 of the gene respectively. This proves that the deletion of exon 45, 46, 47 in this patient is the diagnosis of Becker muscular dystrophy. For the family genetic counseling obtained reliable information