title: Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.
abstract: The spinal muscular atrophies (SMA) are among the most common autosomal recessive disorders. We have performed linkage analysis using both standard restriction fragment length polymorphisms (RFLPs) as well as microsatellite polymorphisms [Ca(n)] on 49 Canadian SMA families (types 1, 2, and 3) that both flank and are linked to SMA. The closest SMA linkage was observed with the MAP1B locus (zmax = 8.04, theta max = 0.0). Multipoint linkage analysis gave a high probability of SMA mapping between D5S6 and D5S39. Only one family (type 3) that fulfilled our diagnostic criteria for SMA showed nonlinkage with 5q13 markers. This study shows the feasibility of accurate molecular diagnosis of SMA utilizing 5q13 satellite polymorphisms.
authors.affiliation: Department of Pediatrics Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: A
authors.initials: A
authors.lastname: MacKenzie
authors.forename: N
authors.initials: N
authors.lastname: Roy
authors.forename: A
authors.initials: A
authors.lastname: Besner
authors.forename: G
authors.initials: G
authors.lastname: Mettler
authors.forename: P
authors.initials: P
authors.lastname: Jacob
authors.forename: R
authors.initials: R
authors.lastname: Korneluk
authors.forename: L
authors.initials: L
authors.lastname: Surh
mesh_terms: D002170:Canada; D002503:Centromere; D002874:Chromosome Mapping / Q000379:methods*; D002895:Chromosomes, Human, Pair 5; D004276:DNA, Satellite / Q000032:analysis*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics; D016615:Telomere
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D008869:Microtubule-Associated Proteins; C085284:microtubule-associated protein 1B