OBJECTIVETo observe the characteristics of changes of p13E-11 labelled 4q35 EcoRI fragments and to make a gene diagnosis of facioscapulohumeral muscular dystrophy(FSHD).

METHODSGenomic DNA was extracted and was digested by EcoR I /Bln I. After pulsed field gel electrophoresis, 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.

RESULTSIn 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.

CONCLUSIONIt 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.

Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 4 ; genetics ; DNA Fragmentation ; Deoxyribonuclease EcoRI ; metabolism ; Female ; Genes ; Humans ; Male ; Middle Aged ; Molecular Diagnostic Techniques ; Muscular Dystrophy, Facioscapulohumeral ; diagnosis ; genetics ; Restriction Mapping ; Young Adult