title: The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
abstract: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder which is genetically linked to the short arm of chromosome 6, telomeric to the human major histocompatibility complex (HLA) and very close to D6S89. Previous multipoint linkage analysis using HLA, D6S89, and SCA1 suggested that SCA1 maps centromeric to D6S89. Data from this study using nine large kindreds indicate a maximum lod score between SCA1 and D6S89 of 67.58 at a maximum recombination fraction of .004. To localize SCA1 more precisely, we identified five dinucleotide polymorphisms near D6S89. Genotypic analyses at these polymorphic loci were carried out in nine multigeneration SCA1 kindreds and in the Centre d'Etude du Polymorphisme Humain reference families. A new marker, AM10GA, demonstrates no recombination with SCA1. The maximum lod score for AM10GA linkage to SCA1 is 42.14 at a recombination fraction of 0. Linkage analysis and analysis of recombination events confirm that SCA1 maps centromeric to D6S89 and establish the following order: CEN-D6S109-AM10GA/SCA1-D6S89-LR40-D6S20 2-TEL.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: T J
authors.initials: TJ
authors.lastname: Kwiatkowski
authors.forename: H T
authors.initials: HT
authors.lastname: Orr
authors.forename: S
authors.initials: S
authors.lastname: Banfi
authors.forename: A E
authors.initials: AE
authors.lastname: McCall
authors.forename: C
authors.initials: C
authors.lastname: Jodice
authors.forename: F
authors.initials: F
authors.lastname: Persichetti
authors.forename: A
authors.initials: A
authors.lastname: Novelletto
authors.forename: F
authors.initials: F
authors.lastname: LeBorgne-DeMarquoy
authors.forename: L A
authors.initials: LA
authors.lastname: Duvick
authors.forename: M
authors.initials: M
authors.lastname: Frontali
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002503:Centromere; D002648:Child; D002874:Chromosome Mapping / Q000379:methods; D002896:Chromosomes, Human, Pair 6; D003001:Cloning, Molecular; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D013132:Spinocerebellar Degenerations / Q000235:genetics*
chemical_list: D005819:Genetic Markers