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

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
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 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.
0022-2593
93-96
Daniels, R J
ca66d1af-73cd-4619-9776-bdaf416b2cf1
Campbell, L
c60881d8-06f4-4303-9939-f4e64a853fe8
Rodrigues, N R
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Francis, M J
2dc1d51c-cfdb-496c-8c96-3bdc7bedb17d
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
McLean, M
b9db712a-10b6-4a2b-952b-939ec92cebaa
MacKenzie, A
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Ignatius, J
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Dubowitz, V
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Davies, K E
3945af6e-1dbe-4e8e-a095-b0a1ebf9684c
Daniels, R J
ca66d1af-73cd-4619-9776-bdaf416b2cf1
Campbell, L
c60881d8-06f4-4303-9939-f4e64a853fe8
Rodrigues, N R
18ec5538-42d3-4437-a590-182d24114efd
Francis, M J
2dc1d51c-cfdb-496c-8c96-3bdc7bedb17d
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
McLean, M
b9db712a-10b6-4a2b-952b-939ec92cebaa
MacKenzie, A
99ffc73d-4037-4ad8-a48a-4ef603d1a778
Ignatius, J
2cd00520-dd1a-46ea-a709-1c0e0ccdd2c1
Dubowitz, V
05b2f2ef-d0c7-4d9f-af3c-666544d86cab
Davies, K E
3945af6e-1dbe-4e8e-a095-b0a1ebf9684c

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)

Record type: Article

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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More information

Accepted/In Press date: 28 October 1994
Published date: February 1995
Organisations: Medical Education

Identifiers

Local EPrints ID: 399553
URI: https://eprints.soton.ac.uk/id/eprint/399553
ISSN: 0022-2593
PURE UUID: 29de6fa2-9bd1-468a-9bd4-43888ad8c701
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 12:58
Last modified: 06 Jun 2018 12:19

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Contributors

Author: R J Daniels
Author: L Campbell
Author: N R Rodrigues
Author: M J Francis
Author: K.E. Morrison ORCID iD
Author: M McLean
Author: A MacKenzie
Author: J Ignatius
Author: V Dubowitz
Author: K E Davies

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