title: A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.
abstract: Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S435-SMA-D5S557-5qter. We have isolated a new dinucleotide repeat marker, CATT1, that lies between these two closest markers. The marker CATT1 has 16 alleles and is highly polymorphic. The marker can have 1 to 4 (or more) copies per chromosome, giving rise to individuals with up to 8 (or more) alleles. All of the subloci map between the markers D5S557 and D5S435 and lie in close proximity to one another. The marker CATT1 is linked to the SMA gene with a lod score of Zmax = 34.42 at theta = 0 and crosses all available recombinants. Certain alleles occurred more frequently in either the SMA or normal populations, indicating significant allelic association between CATT1 and the SMA locus. Haplotype analysis combining U.S. and Canadian SMA families reveals that one haplotype group (VII) occurs significantly more frequently in the SMA population than in the normal. This confirms the allelic association of CATT1 with the SMA locus.
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: M
authors.initials: M
authors.lastname: McLean
authors.forename: T G
authors.initials: TG
authors.lastname: Thompson
authors.forename: J D
authors.initials: JD
authors.lastname: McPherson
authors.forename: Z
authors.initials: Z
authors.lastname: Kote-Jarai
authors.forename: J D
authors.initials: JD
authors.lastname: Carpten
authors.forename: C J
authors.initials: CJ
authors.lastname: DiDonato
authors.forename: J E
authors.initials: JE
authors.lastname: Ikeda
authors.forename: L
authors.initials: L
authors.lastname: Surh
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002170:Canada; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D017931:DNA Primers; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014481:United States
chemical_list: D017931:DNA Primers; D005819:Genetic Markers