Human Genetics

, Volume 96, Issue 3, pp 330–334 | Cite as

A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy

  • Zahra Yaraghi
  • Michael D. McLean
  • Natalie Roy
  • Linda Surh
  • Joh-E. Ikeda
  • Robert G. Korneluk
  • Alex MacKenzie
Short Communication
Received:
Revised:

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.

Keywords

Internal Medicine Metabolic Disease Linkage Analysis Recombination Event Spinal Muscular Atrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Zahra Yaraghi
    • 1
  • Michael D. McLean
    • 3
  • Natalie Roy
    • 1
  • Linda Surh
    • 4
  • Joh-E. Ikeda
    • 3
    • 5
  • Robert G. Korneluk
    • 2
    • 3
    • 4
  • Alex MacKenzie
    • 1
    • 4
  1. 1.Department of BiochemistryUniversity of OttawaOttawaCanada
  2. 2.Department of Microbiology and ImmunologyOttawaCanada
  3. 3.Genosphere Project, Faculty of MedicineUniversity of OttawaOttawaCanada
  4. 4.Division of GeneticsChildren's Hospital of Eastern OntarioOntarioCanada
  5. 5.IGSP/ERATO, Tokai University School of MedicineTokaiJapan

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