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PMID: 2995231 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Human genetics ·Vol. 71 ·No. 2 ·1985-00-00 ·Pages 103-7

Dorkins H, Junien C, Mandel JL, Wrogemann K, Moison JP, Martinez M, Old JM, Bundey S, Schwartz M, Carpenter N

Abstract

A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD families four crossovers were observed in 38 informative meioses between C7 and the DMD locus (theta = 0.12, z max = +2.72). In BMD families no recombinants were observed in the 16 informative meioses studied. These data are consistent with the localisation of the mutations in these disorders being in the same region of Xp21. Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as X centromere-754-DMD-BMD-C7-X telomere. A recombination fraction of 0.11 (z max = +5.58) was found between DMD-754 by combining our previously published data with the data presented here. C7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD.

MeSH Terms

Chromosome Banding Chromosome Mapping DNA Restriction Enzymes Female Genetic Linkage Genetic Markers Humans Male Muscular Dystrophies/genetics Pedigree X Chromosome

Chemicals

Genetic Markers DNA Restriction Enzymes

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Dorkins H

Junien C

Mandel J L

Wrogemann K

Moison J P

Martinez M

Old J M

Bundey S

Schwartz M

Carpenter N

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25 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00283362

Published

1985-00-00

Pages

103-7

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00283362 View journal details

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Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

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