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

Hum Mol Genet. 1993 Aug;2(8):1161-7. doi: 10.1093/hmg/2.8.1161.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • DNA Primers
  • DNA, Satellite
  • DNA