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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.


Journal article


Hum Genet

Publication Date





133 - 138


Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 5, DNA, Satellite, Female, Fetal Diseases, Genetic Linkage, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Male, Molecular Sequence Data, Pedigree, Polymerase Chain Reaction, Polymorphism, Genetic, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Recombination, Genetic, Spinal Muscular Atrophies of Childhood