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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.

Original publication




Journal article


Hum Mol Genet

Publication Date





1161 - 1167


Base Sequence, Child, Chromosome Mapping, Chromosomes, Artificial, Yeast, Chromosomes, Human, Pair 5, Cosmids, DNA, DNA Primers, DNA, Satellite, Female, Genes, Recessive, Humans, In Situ Hybridization, Fluorescence, Male, Molecular Sequence Data, Muscular Atrophy, Spinal, Pedigree, Polymerase Chain Reaction, Restriction Mapping