Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers

The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9...

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Bibliographic Details
Published in:American journal of human genetics 1994-04, Vol.54 (4), p.687-694
Main Authors: CLERMONT, O, BURLET, P, LATHROP, M, MUNNICH, A, MELKI, J, BURGLEN, L, LEFEBVRE, S, PASCAL, F, MCPHERSON, J, WASMUTH, J. J, COHEN, D, LE PASLIER, D, WEISSENBACH, J
Format: Article
Language:English
Subjects:
ATROPHY
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
CENTRAL NERVOUS SYSTEM
Child
chromosome 5
Chromosome Mapping - methods
CHROMOSOMES
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 5
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DISEASES
Female
genes
Genetic Linkage
GENETIC MAPPING
Genetic Markers
HEREDITARY DISEASES
Homozygote
HUMAN CHROMOSOME 5
HUMAN CHROMOSOMES
Humans
Male
man
MAPPING
Medical sciences
MUSCLES
Muscular Atrophy, Spinal - genetics
NERVOUS SYSTEM
Neurology
Original
PATHOLOGICAL CHANGES 550400 > Genetics
Polymorphism, Genetic
SPINAL CORD
spinal muscular atrophy
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Summary:The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.
ISSN:0002-9297
1537-6605