High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11

Science. 1984 Jul 6;225(4657):57-9. doi: 10.1126/science.6587566.

Abstract

A rapid gene-mapping system uses a high-resolution, dual-laser sorter to identify genes from separate human chromosomes prepared with a new stain combination. This system was used to sort 21 unique chromosome types onto nitrocellulose filter papers. Several labeled gene probes hybridized to the sorted chromosomal DNA types predicted by their previous chromosome assignments. The skeletal muscle glycogen phosphorylase gene was then mapped to a portion of chromosome 11 by spot blotting normal and translocated chromosomes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Mapping*
  • Chromosomes, Human, 6-12 and X*
  • Cricetinae
  • Cricetulus
  • DNA / metabolism*
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Hybrid Cells
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization
  • Phosphorylases / genetics

Substances

  • DNA
  • Phosphorylases