Limb girdle muscular dystrophy type 2A (CAPN3): mapping using allelic association

Hum Hered. 1998 Nov-Dec;48(6):333-7. doi: 10.1159/000022825.

Abstract

Recently a graphical study of linkage disequilibrium around the CAPN3 locus failed to refine the 1.3-Mb interval suggested by haplotype sharing. On the contrary, the Malecot model as implemented in the ALLASS program maps CAPN3 within 3 kb of its true location (23 kb from the locus midpoint), overcoming identified problems with small samples, interrelated sibships, and short duration.

MeSH terms

  • Alleles*
  • Calpain / genetics*
  • Genes, Recessive
  • Genetic Markers
  • Humans
  • Isoenzymes*
  • Linkage Disequilibrium
  • Models, Genetic
  • Muscle Proteins*
  • Muscular Dystrophies / genetics*
  • Peptide Fragments / genetics*

Substances

  • Genetic Markers
  • Isoenzymes
  • Muscle Proteins
  • Peptide Fragments
  • CAPN3 protein, human
  • Calpain