title: Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.
abstract: Facioscapulohumeral muscular dystrophy is an important autosomal dominant neuromuscular disorder that has been localised to 4q35. We have analysed our extensive panel of 45 families with a new DNA marker p13E-11. The findings, based on multiply informative individual meioses and multipoint mapping, suggest that probe p13E-11 is the closest marker for the disorder and it is likely to be located proximal to the disease locus as are all the other present markers. In nine of the ten new mutations studied, a new smaller EcoRI fragment which was not present in either of the parents was detected, indicating that a de novo DNA rearrangement is indeed associated with the development of the disease state. However, in view of the difficulty in defining the size of over 30kb alleles and the recombinant events observed with p13E-11, we suggest that it should be used in combination with another VNTR marker until a close distal flanking marker for this condition is identified or the gene itself is isolated.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: P
authors.initials: P
authors.lastname: Jardine
authors.forename: J
authors.initials: J
authors.lastname: Maynard
authors.forename: J
authors.initials: J
authors.lastname: Farnham
authors.forename: M
authors.initials: M
authors.lastname: Sarfarazi
authors.forename: C
authors.initials: C
authors.lastname: Wijmenga
authors.forename: J E
authors.initials: JE
authors.lastname: Hewitt
authors.forename: R
authors.initials: R
authors.lastname: Frants
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
authors.forename: P W
authors.initials: PW
authors.lastname: Lunt
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008297:Male; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D006113:United Kingdom
chemical_list: D015342:DNA Probes; D005819:Genetic Markers