Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome

Thomas, N.S.T., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Elsas, L.J., Hopkins, L.C., Sarfarazi, M. and Harper, P.S. 1986. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. Journal of Medical Genetics 23 (6) , pp. 596-598. 10.1136/jmg.23.6.596

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Abstract

The linkage relationships of the gene for Emery-Dreifuss muscular dystrophy have been analysed in a large American kindred using DNA probes from different regions of the X chromosome. Close linkage was found with the locus for factor VIII, with no recombinants in 12 opportunities (maximum lod score 4.3), and with locus DXS15 (two recombinants in 17 opportunities, maximum lod score 2.9 at θ = 10 cM). No linkage was found with probes pERT87 and 754, which are closely linked to Duchenne and Becker muscular dystrohies at Xp21. These results confirm a separate localisation on the distal part of the long arm at q27-28 for Emery-Dreifuss muscular dystrophy and should provide the basis for prenatal diagnosis and improved carrier detection in this disorder if the linkage is confirmed to be close.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Publisher:	BMJ Publishing Group
ISSN:	0022-2593
Last Modified:	26 Oct 2022 08:47
URI:	https://orca.cardiff.ac.uk/id/eprint/128313

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