Multipoint mapping of the central core disease locus.
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.
Schwemmle
S
S
Institut für Humangenetik Universität, Würzburg, Germany.
Wolff
K
K
Palmucci
L M
LM
Grimm
T
T
Lehmann-Horn
F
F
Hübner
C
C
Hauser
E
E
Iles
D E
DE
MacLennan
D H
DH
Müller
C R
CR
D000818:Animals; D015220:Calcium Channels / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004195:Disease Models, Animal; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000662:veterinary; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel; D013045:Species Specificity; D013552:Swine / Q000235:genetics; D013553:Swine Diseases / Q000235:genetics
D015220:Calcium Channels; D005819:Genetic Markers; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel