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Familial deletion in Becker type muscular dystrophy within the pXJ region
S Liechti-Gallati1, S Braga, H Hirsiger
1University Department of Pediatrics, Inselpital, Berne, Switzerland.
Human Genetics
|November 1, 1987
Abstract:
A family of an isolated patient with Becker muscular dystrophy has been investigated by DNA analysis. Southern blotting and hybridization were performed with six probes (C7, pERT87.15, pERT87.1, pXJ1.1, pXJ2.3, 754) mapping in the Xp21 region. A deletion within the pXJ region was demonstrated in the proband, his mother and all three sisters. The segregation pattern for the restriction fragment length polymorphisms (RFLPs) observed with the pXJ probes as well as with pERT87.15, pERT87.1 and 754 probes indicates that the deletion is of grandpaternal origin.