Refined genetic localization for central core disease

J. C. Mulley, H. M. Kozman, H. A. Phillips, A. K. Gedeon, J. A. McCure, D. E. Iles, R. G. Gregg, K. Hogan, Fergus J Couch, D. H. MacLennan, E. A. Haan

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Central core disease (CCO) is an autosomal dominant myopathy clinically distinct from malignant hyperthermia (MHS). In a large kindred in which the gene for CCO is segregating, two-point linkage analysis gave a maximum lod score, between the central core disease locus (CCO) and the ryanodine receptor locus (RYR1), of 11.8, with no recombination. Mutation within RYR1 is responsible for MHS, and RYR1 is also a candidate locus for CCO. A combination of physical mapping using a radiation-induced human-hamster hybrid panel and of multipoint linkage analysis using the Centre d'Etude du Polymorphisme Humain families established the marker order and sex-average map distances (in centimorgans) on the background map as D19S75-(5.2)-D19S9-(3.4)-D19S191-(2.2)-RYR1-(1.7)-D19S190-(1.6)-D19S47-(2.0)- CYP2B. Recombination was observed between CCO and the markers flanking RYR1. These linkage data are consistent with the hypothesis that CCO and RYR1 are allelic. The most likely position for CCO is near RYR1, with a multipoint lod score of 11.4, in 19q13.1 between D19S191 and D19S190, within the same interval as MHS (RYR1).

Original languageEnglish (US)
Pages (from-to)398-405
Number of pages8
JournalAmerican Journal of Human Genetics
Volume52
Issue number2
StatePublished - Feb 1993
Externally publishedYes

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Central Core Myopathy
Lod Score
Genetic Recombination
Malignant Hyperthermia
Ryanodine Receptor Calcium Release Channel
Information Storage and Retrieval
Muscular Diseases
Cricetinae
Radiation

ASJC Scopus subject areas

  • Genetics

Cite this

Mulley, J. C., Kozman, H. M., Phillips, H. A., Gedeon, A. K., McCure, J. A., Iles, D. E., ... Haan, E. A. (1993). Refined genetic localization for central core disease. American Journal of Human Genetics, 52(2), 398-405.

Refined genetic localization for central core disease. / Mulley, J. C.; Kozman, H. M.; Phillips, H. A.; Gedeon, A. K.; McCure, J. A.; Iles, D. E.; Gregg, R. G.; Hogan, K.; Couch, Fergus J; MacLennan, D. H.; Haan, E. A.

In: American Journal of Human Genetics, Vol. 52, No. 2, 02.1993, p. 398-405.

Research output: Contribution to journalArticle

Mulley, JC, Kozman, HM, Phillips, HA, Gedeon, AK, McCure, JA, Iles, DE, Gregg, RG, Hogan, K, Couch, FJ, MacLennan, DH & Haan, EA 1993, 'Refined genetic localization for central core disease', American Journal of Human Genetics, vol. 52, no. 2, pp. 398-405.
Mulley JC, Kozman HM, Phillips HA, Gedeon AK, McCure JA, Iles DE et al. Refined genetic localization for central core disease. American Journal of Human Genetics. 1993 Feb;52(2):398-405.
Mulley, J. C. ; Kozman, H. M. ; Phillips, H. A. ; Gedeon, A. K. ; McCure, J. A. ; Iles, D. E. ; Gregg, R. G. ; Hogan, K. ; Couch, Fergus J ; MacLennan, D. H. ; Haan, E. A. / Refined genetic localization for central core disease. In: American Journal of Human Genetics. 1993 ; Vol. 52, No. 2. pp. 398-405.
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