Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.

Abstract

Further DNA linkage studies on two previously described X-linked recessive Emery-Dreifuss muscular dystrophy (EMD) families are reported, which refine the localization of the gene responsible for EMD. Two recombination events indicate that the most likely localization for the EMD gene lies in the interval between DXS15/DXS52 and F8C. A maximum LOD score of 3.44 at theta = 0 is obtained for EMD vs the red and green cone pigment genes (RCP and GCP). Our data provide additional support for one of the two proposed orientations of genes and markers distal to DXS15/DXS52, with respect to the telomere. Given this favoured orientation, our data best fit a localization of EMD to within a 2 megabase (Mb) interval between DXS15/DXS52 and F8C.

• Authors: C G Cole, S J Abbs, V Dubowitz, S V Hodgson, J Warner, L Merlini, M Bobrow
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 2 Issue 1 Pg. 51-7 ( 1992) ISSN: 0960-8966 [Print] England
• PMID: 1525559 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Factor VIII

Topics

• Adolescent
• Blotting, Southern
• Eye Color (genetics)
• Factor VIII (genetics)
• Genes, Recessive
• Genetic Linkage
• Humans
• Male
• Muscular Dystrophies (genetics)
• Muscular Dystrophy, Emery-Dreifuss
• Nucleic Acid Hybridization
• Pedigree
• Photoreceptor Cells (metabolism)
• X Chromosome