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Refined genetic localization for central core disease

J C Mulley1, H M Kozman, H A Phillips

  • 1Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, North Adelaide, Australia.

American Journal of Human Genetics
|February 1, 1993
PubMed
Summary
This summary is machine-generated.

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Central core disease (CCO), a distinct myopathy, is genetically linked to the RYR1 gene locus, which also causes malignant hyperthermia (MHS). This study confirms RYR1 as the CCO gene, located in the 19q13.1 region.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Molecular Biology

Background:

  • Central core disease (CCO) is an autosomal dominant myopathy.
  • CCO is clinically distinct from malignant hyperthermia (MHS).
  • The ryanodine receptor gene (RYR1) is known to cause MHS and is a candidate for CCO.

Purpose of the Study:

  • To investigate the genetic linkage between CCO and the RYR1 locus.
  • To determine the precise chromosomal location of the CCO gene.

Main Methods:

  • Two-point and multipoint linkage analysis were performed in a large kindred.
  • Physical mapping using a radiation-induced hybrid panel was employed.
  • Marker order and genetic distances were established on chromosome 19q13.1.

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Main Results:

  • A maximum lod score of 11.8 indicated strong linkage between CCO and RYR1.
  • Physical and multipoint linkage mapping localized the CCO locus to 19q13.1, near RYR1.
  • Recombination data supported the allelic nature of CCO and RYR1.

Conclusions:

  • The RYR1 gene is the most likely candidate gene for central core disease.
  • CCO and MHS share the same genetic locus (RYR1) in 19q13.1.
  • These findings clarify the genetic basis of CCO and its relationship to MHS.