Linkage mapping of the spinal muscular atrophy gene |
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| Authors: | Arthur H. M. Burghes Susan E. Ingraham Zsofia Kóte-Jarai Scott Rosenfeld Nancy Herta Nitin Nadkarni Christine J. DiDonato John Carpten Orest Hurko Julaine Florence Richard T. Moxley Jan M. Cobben Jerry R. Mendell |
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| Affiliation: | (1) Department of Medical Biochemistry, College of Medicine, Ohio State University, 43210 Columbus, OH, USA;(2) Department of Neurology, College of Medicine, Ohio State University, 43210 Columbus, OH, USA;(3) Department of Molecular Genetics, College of Biological Sciences, Ohio State University, 43210 Columbus, OH, USA;(4) Department of Neurology, Johns Hopkins Medical School, 21218 Baltimore, MD, USA;(5) Department of Neurology, Washington University, 63130 St. Louis, MO, USA;(6) Department of Neurology, University of Rochester, 14627 NY, USA;(7) Department of Medical Genetics, University of Groningen, Groningen, The Netherlands;(8) Department of Neurology, Ohio State University, 452 Means Hall, 1654 Upham Dr., 43210 Columbus, OH, USA |
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| Abstract: | Spinal muscular atrophy (SMA) is a common autosomal recessive disorder resulting in loss of motor neurons. We have performed linkage analysis on a panel of families using nine markers that are closely linked to the SMA gene. The highest lod score was obtained with the marker D5S351 (Zmax = 10.04 at  = 0 excluding two unlinked families, and Zmax = 8.77 at = 0.007 with all families). One type III family did not show linkage to the 5q13 markers, and in one type I consanguineous family the affected individual did not show homozygosity except for the marker D5S435. Three recombinants were identified with the closest centromeric marker, D5S435, which position the gene telomeric of this marker. These recombinants will facilitate finer mapping of the location of the SMA gene. Lastly, two families provide strong evidence for a remarkable variability in presentation of the SMA phenotype, with the age at onset in one family varying from 17 months to 13 years. |
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