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Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
  1. R J Daniels,
  2. L Campbell,
  3. N R Rodrigues,
  4. M J Francis,
  5. K E Morrison,
  6. M McLean,
  7. A MacKenzie,
  8. J Ignatius,
  9. V Dubowitz,
  10. K E Davies
  1. Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

    Abstract

    Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritance of alleles from one or both parents. The inheritance of a null allele was observed in 26 out of 36 (72%) informative childhood onset spinal muscular atrophy (SMA) families tested, of all types of severity and from a variety of ethnic backgrounds. In seven families segregating for the severe Werdnig-Hoffmann or SMA type I, no alleles were inherited from either parent using this microsatellite. This null allele may represent a deletion which is either closely associated with, or causes, the disease.

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