title: A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.
abstract: The gene for the childhood spinal muscular atrophies (SMAs) has been mapped to 5q13.1. The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S629-SMA-D5S557-5qter. We have identified a recombination event within this interval on a type-I SMA chromosome. The recombination maps to a region of multilocus microsatellite repeat (MSR) markers, and occurs between different subloci of two such markers, CMS-1 and 7613. While the possibility of a novel mutation caused by the recombination cannot be discounted, we believe when viewed in the context of a similar recombination in a Dutch SMA family, a centromeric boundary at the recombination site for the critical SMA interval is likely. This new proximal boundary would reduce the minimal region harboring the SMA locus from approximately 1.1 Mb to approximately 600 kb.
authors.affiliation: Department of Biochemistry, University of Ottawa, Ontario, Canada.
authors.forename: Z
authors.initials: Z
authors.lastname: Yaraghi
authors.forename: M D
authors.initials: MD
authors.lastname: McLean
authors.forename: N
authors.initials: N
authors.lastname: Roy
authors.forename: L
authors.initials: L
authors.lastname: Surh
authors.forename: J E
authors.initials: JE
authors.lastname: Ikeda
authors.forename: R G
authors.initials: RG
authors.lastname: Korneluk
authors.forename: A
authors.initials: A
authors.lastname: MacKenzie
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017931:DNA Primers; D004276:DNA, Satellite / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D016615:Telomere / Q000235:genetics
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D005819:Genetic Markers