title: Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.
abstract: Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax greater than or equal to 3.00). However, two areas of probable linkage were defined on chromosomes 1p and 4q with the markers MNS (Zmax = 1.47 at theta max = 0.10) and PGM1 (Zmax = 0.94 at theta max = 0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA.
authors.affiliation: Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
authors.forename: T
authors.initials: T
authors.lastname: Siddique
authors.forename: H
authors.initials: H
authors.lastname: Roper
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: J
authors.initials: J
authors.lastname: Shaw
authors.forename: K L
authors.initials: KL
authors.lastname: Warner
authors.forename: W Y
authors.initials: WY
authors.lastname: Hung
authors.forename: K L
authors.initials: KL
authors.lastname: Phillips
authors.forename: P
authors.initials: P
authors.lastname: Lunt
authors.forename: W J
authors.initials: WJ
authors.lastname: Cumming
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
mesh_terms: D002874:Chromosome Mapping; D004247:DNA; D003627:Data Interpretation, Statistical; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers; D004247:DNA