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Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)
Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)
Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12–13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2a and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR based proximal markers in SMA to be described, and will be of value in prental prediction of the disorder.
0340-6717
133-138
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Daniels, R.J.
6ce0daff-d937-45d6-a074-c7c0e9889523
Suthers, G.K.
1bb368eb-9121-420c-96b1-0582a0a20222
Flynn, G.A.
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Francis, M.J.
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Grewal, P.K.
f2a16bef-e403-4ac4-9fe1-615740b1347a
Dennis, C.
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Buckle, V.
2b13f746-4f82-4a9e-8ce4-662564cb9ec7
Ignatius, J.
56d4247f-46e7-4753-a764-b39f1276d95b
Dubowitz, V.
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Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Daniels, R.J.
6ce0daff-d937-45d6-a074-c7c0e9889523
Suthers, G.K.
1bb368eb-9121-420c-96b1-0582a0a20222
Flynn, G.A.
24a61cc2-c7a4-499a-b19c-751c729b9e44
Francis, M.J.
c207e79b-ef95-487e-895a-3d2d0476d6a5
Grewal, P.K.
f2a16bef-e403-4ac4-9fe1-615740b1347a
Dennis, C.
41dfbdde-f1b0-4c00-8aff-fe0b59894db1
Buckle, V.
2b13f746-4f82-4a9e-8ce4-662564cb9ec7
Ignatius, J.
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Dubowitz, V.
f221e823-2e0c-45d9-926b-d623a8373c79
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6

Morrison, K.E., Daniels, R.J., Suthers, G.K., Flynn, G.A., Francis, M.J., Grewal, P.K., Dennis, C., Buckle, V., Ignatius, J., Dubowitz, V. and Davies, K.E. (1993) Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA). Human Genetics, 92 (2), 133-138. (doi:10.1007/BF00219680).

Record type: Article

Abstract

Autosomal recessive spinal muscular atrophy (SMA) has been mapped to a 6-cM interval on chromosome 5q12–13.3, flanked proximally by locus D5S6 and distally by locus D5S112. In this study we describe the isolation of two new microsatellite markers (EF1/2a and EF13/14) near locus D5S125, which lies 2 cM distal to D5S6. We show by linkage analysis and the study of the recombinants in 55 SMA pedigrees that the disease lies in the 4-cM interval between EF1/2a and D5S112. Fluorescence in situ analysis of cosmids from D5S6, EF1/2a and D5S112 confirms the genetic order and relative distance of markers. The microsatellites EF1/2a and EF13/14 are the first highly polymorphic PCR based proximal markers in SMA to be described, and will be of value in prental prediction of the disorder.

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Published date: September 1993
Organisations: Medical Education

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Local EPrints ID: 399557
URI: https://eprints.soton.ac.uk/id/eprint/399557
ISSN: 0340-6717
PURE UUID: 506e83b7-b63c-47f1-a680-762b3a262a85
ORCID for K.E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 13:27
Last modified: 06 Jun 2018 12:19

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Contributors

Author: K.E. Morrison ORCID iD
Author: R.J. Daniels
Author: G.K. Suthers
Author: G.A. Flynn
Author: M.J. Francis
Author: P.K. Grewal
Author: C. Dennis
Author: V. Buckle
Author: J. Ignatius
Author: V. Dubowitz
Author: K.E. Davies

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