Gene diagnosis of facioscapulohumeral muscular dystrophy

Objective To observe the characteristics of changes of p13E 11 labelled 4q35 EcoRⅠ fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy (FSHD).Methods Genomic DNA was extracted and was digested by EcoRⅠ/Bln Ⅰ. After pulsed field gel electrophorsis, it was hybridized with probe p13E 11 by Southern blot. The illness was diagnosed as FSHD when the 4q35 EcoRⅠ fragment was smaller than 38 kb. Results In 26 cases of FSHD, the fragments of 20 cases were smaller than 38 kb. The positive rate was 76.92%. In 12 cases of FSHD family members, the fragments of 2 cases were smaller than 38 kb. All fragments of the 21 controls were greater than 38 kb. Conclusion It was rather good to use 38 kb as a standard for diagnosis of FSHD. The positive rate of FSHD was similar to that from the references.