Multipoint Mapping of the Central Core Disease Locus

• Published in: Genomics (San Diego, Calif.) Vol. 17; no. 1; pp. 205 - 207
• Main Authors: Schwemmle, S., Wolff, K., Palmucci, L.M., Grimm, T., Lehmann-Horn, F., Hübner, Ch, Hauser, E., Iles, D.E., MacLennan, D.H., Müller, C.R.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01.07.1993; Elsevier
• Subjects: 550400 - Genetics; Animals; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; Calcium Channels - genetics; central core disease; chromosome 19; Chromosome Mapping; CHROMOSOMES; Chromosomes, Human, Pair 19; Disease Models, Animal; DISEASES; Diseases of striated muscles. Neuromuscular diseases; Female; GENETIC MAPPING; Genetic Markers; HEREDITARY DISEASES; HUMAN CHROMOSOME 19; HUMAN CHROMOSOMES; Humans; linkage analysis; Lod Score; Male; Malignant Hyperthermia - genetics; Malignant Hyperthermia - veterinary; man; MAPPING; Medical sciences; Muscle Proteins - genetics; MUSCLES; Muscular Diseases - genetics; Muscular Diseases - pathology; Neurology; Pedigree; Ryanodine Receptor Calcium Release Channel; Species Specificity; Swine - genetics; Swine Diseases - genetics; Genetic mapping; Human; Striated muscle disease; Linkage; Genetic marker; Family study; F19-Chromosome; Central core myopathy; Congenital disease
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1993.1302

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 θ = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at θ = 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.