title: Linkage mapping of the spinal muscular atrophy gene.
abstract: Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at theta = O excluding two unlinked families, and Zmax = 8.77 at theta = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closet centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years.
authors.affiliation: Department of Medical Biochemistry, College of Medicine, Ohio State University, Columbus 43210.
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
authors.forename: S E
authors.initials: SE
authors.lastname: Ingraham
authors.forename: Z
authors.initials: Z
authors.lastname: Kóte-Jarai
authors.forename: S
authors.initials: S
authors.lastname: Rosenfeld
authors.forename: N
authors.initials: N
authors.lastname: Herta
authors.forename: N
authors.initials: N
authors.lastname: Nadkarni
authors.forename: C J
authors.initials: CJ
authors.lastname: DiDonato
authors.forename: J
authors.initials: J
authors.lastname: Carpten
authors.forename: O
authors.initials: O
authors.lastname: Hurko
authors.forename: J
authors.initials: J
authors.lastname: Florence
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D003241:Consanguinity; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers