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...

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Bibliographic Details
Published in:Human genetics 1993-09, Vol.92 (2), p.133-138
Main Authors: MORRISON, K. E, DANIELS, R. J, DAVIES, K. E, SUTHERS, G. K, FLYNN, G. A, FRANCIS, M. J, GREWAL, P. K, DENNIS, C, BUCKLE, V, IGNATIUS, J, DUBOWITZ, V
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 5
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA, Satellite - genetics
Female
Fetal Diseases - diagnosis
Fetal Diseases - genetics
Genetic Linkage
Genetic Markers
Humans
identification
In Situ Hybridization, Fluorescence
linkage analysis
Male
man
Medical sciences
Molecular Sequence Data
Neurology
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Predictive Value of Tests
Pregnancy
prenatal diagnosis
Prenatal Diagnosis - methods
Recombination, Genetic
Spinal Muscular Atrophies of Childhood - diagnosis
Spinal Muscular Atrophies of Childhood - genetics
spinal muscular atrophy
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Summary: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, EF1/2 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 prenatal prediction of the disorder.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00219680