Evidence Supporting Tight Linkage of X-Linked Emery-Dreifuss Muscular Dystrophy to the Factor VIII: C Gene

Abstract

In a large German family with Emery-Dreifuss muscular dystrophy (EDMD) linkage analysis was performed using the factor IX gene (F9), the factor VIII :C gene (F8), the anonymous DNA probe DXS52, and DXS15 as markers. Tight linkage was found between the EDMD locus and the F8 probe (Z_max = 1.19; Θ_max = 0.00), DXS15 (Z_max = 1.75; Θ_max = 0.00) and DXS52 (Z_max = 2.26; Θ_max = 0.00). Weak linkage was found to F9 (Z_max = 0.02; Θ_max = 0.43). The data from the literature and our results suggest that the gene locus of EDMD is close to F8 (confidence interval Θ = 0–0.07). The new linkage data are useful for carrier detection and diagnosis of EDMD patients before onset of major clinical signs.

Report of the Fourth International Workshop on Human X Chromosome Mapping 1993 (Part 1 of 4)

“…61). Also in the gene-rich region of distal Xq28 are the genes for congenital nephrogenic diabetes insipidus [the report of Seibold et al (1992) is added to those in CCM92] and tile putative location for Emery-Dreifuss muscular dystrophy (Wehnert et al, 1991;Kress et al, 1992;Cole et al, 1992;Yates et al, 1993). The linkage between manic depression and X-chromosome markers has, however, become weaker (Baron et al, 1993).…”