Literature DB >> 1525559

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

C G Cole1, S J Abbs, V Dubowitz, S V Hodgson, J Warner, L Merlini, M Bobrow.   

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.

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Year:  1992        PMID: 1525559     DOI: 10.1016/0960-8966(92)90027-4

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  2 in total

1.  Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita.

Authors:  A B Metzenberg; Y Pan; S Das; G S Pai; J Gitschier
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

2.  Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Authors:  J R Yates; J P Warner; J A Smith; F Deymeer; J P Azulay; I Hausmanowa-Petrusewicz; J Zaremba; J Borkowska; N A Affara; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

  2 in total

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