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PMID: 2987105 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

Human genetics ·Vol. 70 ·No. 1 ·1985-00-00 ·Pages 38-42

Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF

Abstract

A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

MeSH Terms
Charcot-Marie-Tooth Disease/genetics Chromosome Mapping DNA/genetics DNA Restriction Enzymes Female Genes, Dominant Genetic Linkage Genetic Variation Humans Male Muscular Atrophy/genetics Nucleic Acid Hybridization Pedigree Polymorphism, Genetic X Chromosome
Chemicals
DNA DNA Restriction Enzymes
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Gal A
Mücke J
Theile H
Wieacker P F
Ropers H H
Wienker T F
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00389456
Published
1985-00-00
Pages
38-42
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00389456 View journal details
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