Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele
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 o...
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Published in | Journal of medical genetics Vol. 32; no. 2; pp. 93 - 96 |
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Main Authors | , , , , , , , , , |
Format | Journal Article Conference Proceeding |
Language | English |
Published |
London
BMJ Publishing Group Ltd
01.02.1995
BMJ BMJ Publishing Group LTD |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | href:jmedgenet-32-93.pdf istex:E1DBF364E848C989ADBCD61D1370205F46BC988A PMID:7760328 ark:/67375/NVC-27N7CSNX-P local:jmedgenet;32/2/93 ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
ISSN: | 0022-2593 1468-6244 1468-6244 |
DOI: | 10.1136/jmg.32.2.93 |