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目的 观察面肩肱型肌营养不良症 ( facioscapulohumeral muscular dystrophy,FSHD)患者p13E- 11标记的 4 q35 Eco R / Bln 片段分子量变化特点 ,对 FSHD进行基因诊断。方法 提取基因组DNA,Eco R / Bln 双酶切后进行脉冲凝胶电泳 ,用同位素标记的探针 p13E- 11进行 Southern印迹 ,以小于 38kb为诊断 FSHD标准 ,观察 4 q35 Eco R / Bln 片段分子量大小的分布。结果 FSHD组 2 6例患者中 ,2 0例 4 q35 Eco R / Bln 片段小于 38kb,基因诊断阳性率为 76 .92 %。 FSHD亲属组 12例 ,其中两例该片段小于 38kb。对照组 2 1人 ,该片段均大于 38kb。结论 以小于 38kb为诊断标准较满意 ,FSHD基因诊断阳性率与文献基本吻合
Objective To investigate the molecular characteristics of 4 q35 Eco R / Bln fragment labeled with p13E-11 in patients with facioscapulohumeral muscular dystrophy (FSHD) and to identify the gene of FSHD. Methods Genomic DNA was extracted and double digested with Eco R / Bln, then subjected to pulse gel electrophoresis and Southern blotting with an isotope labeled probe p13E-11. The molecular weight of the 4 q35 Eco R / Bln fragment was determined by the FSHD standard less than 38 kb Distribution. Results Among 26 patients in FSHD group, 20 cases with 4 q35 EcoR / Bln fragments were less than 38kb, and the positive rate of gene diagnosis was 76.92%. FSHD relatives group of 12 cases, of which two cases of the fragment is less than 38kb. Control group of 21 people, the fragments were greater than 38kb. Conclusions less than 38kb is more satisfied with the diagnostic criteria, FSHD gene diagnostic positive rate consistent with the literature