A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy |
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| Authors: | Zahra Yaraghi Michael D McLean Natalie Roy Linda Surh Joh-E Ikeda Robert G Korneluk Alex MacKenzie |
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| Institution: | (1) Department of Biochemistry, University of Ottawa, K1H8M5 Ottawa, Ontario, Canada;(2) Department of Microbiology and Immunology, K1H8M5 Ottawa, Ontario, Canada;(3) Genosphere Project, Faculty of Medicine, University of Ottawa, K1H8M5 Ottawa, Ontario, Canada;(4) Division of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road Ottawa, K1H8L1 Ontario, Canada;(5) IGSP/ERATO, Tokai University School of Medicine, Tokai, Japan |
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| Abstract: | The gene for the childhood spinal muscular atrophies (SMAs) has been mapped to 5q13.1. The interval containing the SMA gene has been defined by linkage analysis as 5qcen-D5S629-SMA-D5S557-5qter. We have identified a recombination event within this interval on a type-I SMA chromosome. The recombination maps to a region of multilocus microsatellite repeat (MSR) markers, and occurs between different subloci of two such markers, CMS-1 and 7613. While the possibility of a novel mutation caused by the recombination cannot be discounted, we believe when viewed in the context of a similar recombination in a Dutch SMA family, a centromeric boundary at the recombination site for the critical SMA interval is likely. This new proximal boundary would reduce the minimal region harboring the SMA locus from  1.1 Mb to approximately 600 kb. |
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