Multipoint mapping of the central core disease locus

Genomics. 1993 Jul;17(1):205-7. doi: 10.1006/geno.1993.1302.

Abstract

A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Calcium Channels / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Disease Models, Animal
  • Female
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / veterinary
  • Muscle Proteins / genetics*
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Pedigree
  • Ryanodine Receptor Calcium Release Channel
  • Species Specificity
  • Swine / genetics
  • Swine Diseases / genetics

Substances

  • Calcium Channels
  • Genetic Markers
  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel