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PMID: 1935912 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy.

The EMBO journal ·Vol. 10 ·No. 12 ·1991-12-00 ·Pages 3931-9

Bodrug SE, Holden JJ, Ray PN, Worton RG

Abstract

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.

Related Genes
DMD
MeSH Terms
Adult Base Sequence Blotting, Southern Child Chromosomes, Human, Pair 4 DNA Female Humans Molecular Sequence Data Muscular Dystrophies/genetics Polymerase Chain Reaction Recombination, Genetic Restriction Mapping Translocation, Genetic X Chromosome
Chemicals
DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Bodrug S E
Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada.
Holden J J
Ray P N
Worton R G
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44 references, click to expand
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Article Info
Journal
The EMBO journal
Abbr.
EMBO J
ISSN
0261-4189
Published
1991-12-00
Pages
3931-9
Language
English
Region
England
NLM ID
8208664
PMCID
PMC453132
Subset
IM
Databases
GENBANK
M62508, M62509, M62510, M62511, M62512, M62513, M62514, M62515, S65080, S65083
External Links
PubMed source PMC Full Text View journal details
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