title: Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).
abstract: Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12-13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2 and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR-based proximal markers in SMA to be described, and will be of value in prenatal prediction of the disorder.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
authors.forename: K E
authors.initials: KE
authors.lastname: Morrison
authors.forename: R J
authors.initials: RJ
authors.lastname: Daniels
authors.forename: G K
authors.initials: GK
authors.lastname: Suthers
authors.forename: G A
authors.initials: GA
authors.lastname: Flynn
authors.forename: M J
authors.initials: MJ
authors.lastname: Francis
authors.forename: P K
authors.initials: PK
authors.lastname: Grewal
authors.forename: C
authors.initials: C
authors.lastname: Dennis
authors.forename: V
authors.initials: V
authors.lastname: Buckle
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011995:Recombination, Genetic; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers