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目的 探讨面肩肱型肌营养不良 (FSHD)的基因诊断方法。方法 抽取我院 1 997～2 0 0 0年收治的 37例FSHD患者的静脉血 ,常规抽提gDNA ,以EcoRI/HindⅢ、EcoRI/BlnⅠ分别酶切gDNA ,0 6 %琼脂糖凝胶电泳分离 ,p1 3E 1 1探针Southern杂交 ,应用ImageMasterTotalLabv1 1 1分析软件判断杂交片段大小。结果 正常对照只检测到 1个 4q35来源的、大于 33kb的EcoRI +HindⅢ /p1 3E 1 1片段 ,而所有FSHD患者中有 33例检测到 2个 4q35来源的EcoRI +HindⅢ /p1 3E 1 1片段 ,其中包含 1个小于 33kb的小片段 ;3例患者中可检测到 2个小于 33kb的片段 ,但其中 1个来自 1 0q2 6 ;另1例散发性患者中检测到 3个 4q35 型片段 ,且其中 2个小于 33kb。在 1名无症状 9岁男孩中检测到1个与其患病父亲一致的小片段 ,提示为症状前患者。结论 双酶切 /Southern杂交的方法可用于中国人面肩肱型肌营养不良患者的基因诊断及症状前诊断。本文结果首次提示我国FSHD患者中也存在 4q 1 0q的相互易位现象
Objective To investigate the gene diagnosis of facial and shoulder humerus muscular dystrophy (FSHD). Methods Venous blood samples of 37 patients with FSHD treated in our hospital from 1997 to 2000 were collected and gDNA was routinely extracted. The gDNA was digested with EcoRI / HindⅢ and EcoRI / BlnⅠ, and separated by 0 6% agarose gel electrophoresis. p1 3E 1 1 probe Southern hybridization, the use of ImageMasterTotalLabv1 1 1 analysis software to determine the size of hybridization fragments. Results Only 1 EcoRI + HindIII / p1 3E1 1 fragment from 4q35 was detected in the normal control, whereas 2 EcoRI + HindIII / p1 3E 1 1 fragments from 4q35 were detected in 33 of all FSHD patients, Which contains a small fragment of less than 33kb; 3 patients were detected in 2 fragments less than 33kb, but one from 10q26; sporadic cases in another 3 4q35-type fragments detected, and which 2 less than 33kb. A small 9-year-old boy asymptomatic with his father was detected in a small fragment, suggesting that the pre-symptomatic patients. Conclusion The method of double enzyme digestion / Southern hybridization can be used for gene diagnosis and pre-symptomatic diagnosis in Chinese patients with shoulder-bradycardia dystrophy. The results for the first time suggest that there are also 4q10q mutual translocation phenomenon in our patients with FSHD