title: The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).
abstract: Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage relationship to facioscapulohumeral muscular dystrophy (FSHD) in a series of 23 families with this disease. Two hypervariable markers, pH30 (D4S139) and EFD 139.1 (D4S184), both show close linkage with the disorder, with a maximum recombination fraction (theta max) of .02 and a maximum lod score (Zmax) of 36.77 and 34.50, respectively; two other markers, the locus for factor XI (F11) and the microsatellite marker Mfd22 (D4S171), both show less close linkage, with respective theta max of .16 (Zmax = 3.40) for F11 and .24 (Zmax = 1.61) for D4S171. While the relative ordering and orientation of the loci on the chromosome remain provisional, analysis of 15 individual recombination events in seven families supports the order D4S171-F11-D4S184-D4S139-FSHD, with the disease locus telomeric to all four markers.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: P
authors.initials: P
authors.lastname: Lunt
authors.forename: M
authors.initials: M
authors.lastname: Sarfarazi
authors.forename: W
authors.initials: W
authors.lastname: Broadhead
authors.forename: J
authors.initials: J
authors.lastname: Farnham
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA