Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene.
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 (Zmax = 1.19; theta max = 0.00), DXS15 (Zmax = 1.75; theta max = 0.00) and DXS52 (Zmax = 2.26; theta max = 0.00). Weak linkage was found to F9 (Zmax = 0.02; theta max = 0.43). The data from the literature and our results suggest that the gene locus of EDMD is close to F8 (confidence interval theta = 0-0.07). The new linkage data are useful for carrier detection and diagnosis of EDMD patients before onset of major clinical signs.
Institute of Medical Genetics, Ernst-Moritz-Arndt University of Greifswald, FRG.
M
M
Wehnert
G
G
Machill
T
T
Grimm
M
M
Janka
R
R
Camman
W
W
Schröder
F H
FH
Herrmann
D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D005858:Germany; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D005819:Genetic Markers; D005169:Factor VIII