Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy |
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Authors: | Anthony P Monaco Corlee J Bertelson Chris Colletti-Feener Louis M Kunkel |
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Institution: | (1) Division of Genetics, The Children's Hospital, 300 Longwood Avenue, 02115 Boston, MA, USA;(2) The Program in Neuroscience, Harvard University, 02138 Cambridge, MA, USA |
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Abstract: | Summary Twenty-nine deletion breakpoints were mapped in 220 kb of the DXS164 locus relative to potential exons of the Duchenne and Becker muscular dystrophy gene. Four deletion junction fragments were isolated to acquire outlying Xp21 loci on both the terminal and centromere side of the DXS164 locus. The junction loci were used for chromosome walking, searches for DNA polymorphisms, and mapping against deletion and translocation breakpoints. Forty-four unrelated deletions were analyzed using the junction loci as hybridization probes to map the endpoints between cloned Xp21 loci. DNA polymorphisms from the DXS164 and junction loci were used to follow the segregation of a mutation in a family that represents a recombinant. Both the physical and genetic data point to a very large size for this X-linked muscular dystrophy locus. |
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