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PMID: 2881877 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.

Human genetics ·Vol. 75 ·No. 3 ·1987-03-00 ·Pages 221-7

Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM

Abstract

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.

MeSH Terms
Chromosome Deletion Chromosome Fragility Chromosome Mapping Cloning, Molecular Female Genetic Linkage Genetic Markers Humans Male Muscular Dystrophies/genetics Pedigree Polymorphism, Restriction Fragment Length X Chromosome
Chemicals
Genetic Markers
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Monaco A P
Bertelson C J
Colletti-Feener C
Kunkel L M
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33 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00281063
Published
1987-03-00
Pages
221-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NIGMS NIH HHS · T32 GM007753 · United States
NIGMS NIH HHS · 2T 32 GM07753-07 · United States
NICHD NIH HHS · HD 18658 · United States
NINDS NIH HHS · NS23740 · United States
External Links
PubMed source DOI: 10.1007/BF00281063 View journal details
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