Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA) |
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| Authors: | K E Morrison R J Daniels G K Suthers G A Flynn M J Francis P K Grewal C Dennis V Buckle J Ignatius V Dubowitz K E Davies |
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| Institution: | (1) Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Oxford, UK;(2) Department of Clinical Neurology, University of Oxford, Oxford, UK;(3) MCR Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Oxford, UK;(4) Department of Medical Genetics, Vaesollitto, Kalevankatu 16, SF-00100 Helsinki, Finland;(5) Department of Paediatrics, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, W12 OHS London, UK |
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| 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, EF1/2a 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 prental prediction of the disorder. |
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