ArticleJournal of medical genetics1995
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Spinal muscular atrophy.Journal of inherited metabolic disease · 1999Review
- Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.American journal of human genetics · 1998Article
- Molecular diagnosis of spinal muscular atrophy.Archives of disease in childhood · 1998Article
- Molecular genetics of autosomal recessive spinal muscular atrophy.Molecular medicine (Cambridge, Mass.) · 1996Review
- Gene deletions in spinal muscular atrophy.Journal of medical genetics · 1996Article
- Deletions in the survival motor neuron gene in Turkish spinal muscular atrophy patients.Journal of inherited metabolic disease · 1996Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
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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