[Gene diagnosis of facioscapulohumeral muscular dystrophy]

Perform gene diagnosis for Chinese facioscapulohumeral muscular dystrophy(FSHD).

Digest genome DNA with restriction enzymes EcoR I only and EcoR I associated with Bln I. Use 0.6% agarose gel electrophoresis and Southern blotting hybridization with probe P13E11.

For FSHD patients, the sizes of EcoR I + Bln I/P13E11 DNA fragments ranged from 15kb to 33kb. For normal controls, they were over 41kb. Two presymptomatic patients were found.

It is feasible to perform gene diagnosis and presymptomatic diagnosis for most Chinese FSHD patients by Southern blotting hybridization with probe P13E11, following double digestion of genome DNA with restriction enzymes EcoR I and Bln I.