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Molecular analysis of X‐autosome translocations in females with Duchenne muscular dystrophy.
Author(s) -
Bodrug S.E.,
Holden J.J.,
Ray P.N.,
Worton R.G.
Publication year - 1991
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1991.tb04963.x
Subject(s) - biology , duchenne muscular dystrophy , genetics , x chromosome , muscular dystrophy , autosome , chromosomal translocation , gene
To further an understanding of the mechanism of constitutional chromosomal rearrangement, the translocation breakpoints of two X‐autosome translocations carried by females with Duchenne or Becker muscular dystrophy have been mapped, cloned and sequenced. Breakpoints were mapped to specific introns within the dystrophin gene and intron sequences spanning the two breakpoints were cloned and used as probes to identify DNA fragments containing the translocation junctions. The junction‐containing fragments were cloned after amplification by inverse PCR or single‐specific‐primer PCR. Sequence through the junctions and the autosomal regions spanning the breakpoints identified the mechanism of rearrangement as non‐homologous exchange with minor additions or deletions (0–8 nucleotides) at the breakpoints. Paternal origin of these X‐autosome translocations, coupled with evidence for non‐transmission of X‐autosome translocations through male meiosis suggested that the translocations were the result of a post‐meiotic rearrangement in spermiogenesis.