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  • Title: Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).
    Author: Morrison KE, Daniels RJ, Suthers GK, Flynn GA, Francis MJ, Grewal PK, Dennis C, Buckle V, Ignatius J, Dubowitz V.
    Journal: Hum Genet; 1993 Sep; 92(2):133-8. PubMed ID: 8370578.
    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.
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