Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.
The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21.
D001483:Base Sequence; D002891:Chromosomes, Human, Pair 21; D003001:Cloning, Molecular; D004275:DNA, Ribosomal / Q000235:genetics; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D012335:RNA, Ribosomal / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome
D004275:DNA, Ribosomal; D012335:RNA, Ribosomal