High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.
520-527
Morrison, K.E.
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Daniels, R.J.
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Suthers, G.K.
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Flynn, G.A.
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Francis, M.J.
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Buckle, V.J.
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Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
March 1992
Morrison, K.E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Daniels, R.J.
694c1503-8241-466e-8800-6adc0c5fc3b0
Suthers, G.K.
1bb368eb-9121-420c-96b1-0582a0a20222
Flynn, G.A.
24a61cc2-c7a4-499a-b19c-751c729b9e44
Francis, M.J.
c207e79b-ef95-487e-895a-3d2d0476d6a5
Buckle, V.J.
9fac460e-120f-4e85-82a0-7744330b79a9
Davies, K.E.
d3bd26c0-166a-467b-ba0e-29463e6b28d6
Morrison, K.E., Daniels, R.J., Suthers, G.K., Flynn, G.A., Francis, M.J., Buckle, V.J. and Davies, K.E.
(1992)
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
The American Journal of Human Genetics, 50 (3), .
(PMID:1539593)
Abstract
Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.
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Published date: March 1992
Organisations:
Medical Education
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Local EPrints ID: 399562
URI: http://eprints.soton.ac.uk/id/eprint/399562
ISSN: 0002-9297
PURE UUID: 99659835-eee1-400e-935e-df5127db766d
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Date deposited: 18 Aug 2016 13:40
Last modified: 18 Oct 2022 16:36
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Author:
K.E. Morrison
Author:
R.J. Daniels
Author:
G.K. Suthers
Author:
G.A. Flynn
Author:
M.J. Francis
Author:
V.J. Buckle
Author:
K.E. Davies
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