Document Detail

Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy.
MedLine Citation:
PMID:  7668258     Owner:  NLM     Status:  MEDLINE    
X;autosome translocations in females with Duchenne muscular dystrophy (DMD) provide an opportunity to study the mechanisms responsible for chromosomal rearrangements that occur in the germ line. We describe here a detailed molecular analysis of the translocation breakpoints of an X;autosome reciprocal translocation, t(X;5)(p21;q31.1), in a female with DMD. Cosmid clones that contained the X-chromosome breakpoint region were identified, and subclones that hybridized to the translocation junction fragment in restriction digests of the patient's DNA were isolated and sequenced. Primers designed from the X-chromosomal sequence were used to obtain the junction fragments on the der(X) and the der(5) by inverse PCR. The resultant clones were also cloned and sequenced, and this information used to isolate the chromosome 5 breakpoint region. Comparison of the DNA sequences of the junction fragments with those of the breakpoint regions on chromosomes X and 5 revealed that the translocation arose by nonhomologous recombination with an imprecise reciprocal exchange. Four and six base pairs of unknown origin are inserted at the exchange points of the der(X) and der(5), respectively, and three nucleotides are deleted from the X-chromosome sequence. Two features were found that may have played a role in the generation of the translocation. These were (1) a repeat motif with an internal homopyrimidine stretch 10 bp upstream from the X-chromosome breakpoint and (2) a 9-bp sequence of 78% homology located near the breakpoints on chromosomes 5 and X.
I van Bakel; S Holt; I Craig; Y Boyd
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  57     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Aug 
Date Detail:
Created Date:  1995-10-12     Completed Date:  1995-10-12     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  329-36     Citation Subset:  IM    
Department of Biochemistry, University of Oxford, United Kingdom.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/S79512;  S79521
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MeSH Terms
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
Molecular Sequence Data
Muscular Dystrophies / genetics*
Polymerase Chain Reaction
Translocation, Genetic*
X Chromosome*

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