A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) in 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate reg...

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Bibliographic Details
Published inHuman molecular genetics Vol. 2; no. 8; p. 1161
Main Authors Francis, M J, Morrison, K E, Campbell, L, Grewal, P K, Christodoulou, Z, Daniels, R J, Monaco, A P, Frischauf, A M, McPherson, J, Wasmuth, J
Format Journal Article
LanguageEnglish
Published England 01.08.1993
Subjects
Base Sequence
Child
Chromosome Mapping
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 5
Cosmids
DNA - analysis
DNA Primers
DNA, Satellite - genetics
Female
Genes, Recessive
Humans
In Situ Hybridization, Fluorescence
Male
Molecular Sequence Data
Muscular Atrophy, Spinal - genetics
Pedigree
Polymerase Chain Reaction
Restriction Mapping
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Summary:We have constructed a contig of non-chimaeric yeast artificial chromosomes (YACs) across the candidate region for childhood autosomal recessive spinal muscular atrophy (SMA) in 5q13. A novel microsatellite reduces the candidate region to approximately 400kb of DNA distal to D5S435. The candidate region contains blocks of chromosome 5 specific repeats which have copies on 5p as well as elsewhere on 5q. Restriction mapping of the YACs reveals at least one CpG island in the SMA gene region. The YAC maps indicate that the contig contains minimal rearrangements or deletions. The data show the value of screening several YAC libraries simultaneously in order to construct a set of overlapping sequences suitable for candidate gene searches and direct genomic sequencing.
ISSN:0964-6906
DOI:10.1093/hmg/2.8.1161