Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Daniels, R J, Campbell, L, Rodrigues, N R, Francis, M J, Morrison, K.E., McLean, M, MacKenzie, A, Ignatius, J, Dubowitz, V and Davies, K E (1995) Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. Journal of Medical Genetics, 32 (2), 93-96. (PMID:7760328)

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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Contributors

Author: K.E. Morrison

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