Document Detail


High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families.
MedLine Citation:
PMID:  1427902     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Malignant hyperthermia susceptibility (MHS) is a potentially lethal, hereditary disorder of skeletal muscle that may be triggered by inhalation anesthetics and depolarizing muscle relaxants. Defects in the gene encoding the ryanodine receptor (RYR1) localized on human chromosome 19q13.1 have been proposed to be responsible for MHS. Using a chromosome 19-specific human/hamster somatic cell hybrid mapping panel, we were able to determine that four closely linked microsatellite repeat markers bracket RYR1 with the order 19cen-D19S75-D19S191-RYR1-(D19S47, D19S190)-19ter. Application of the four markers to genetic studies of MHS showed recombination between the markers and MHS in two families, with linkage analysis apparently excluding the MHS locus from the RYR1 region of 19q13.1. These results therefore support the recent observations of genetic heterogeneity in MHS.
Authors:
D E Iles; B Segers; L Heytens; R C Sengers; B Wieringa
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  14     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Nov 
Date Detail:
Created Date:  1992-12-17     Completed Date:  1992-12-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  749-54     Citation Subset:  IM    
Affiliation:
Department of Cell Biology and Histology, Catholic University of Nijmegen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Animals
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 19*
Cricetinae
DNA, Satellite / genetics*
Female
Genetic Markers
Haplotypes
Humans
Hybrid Cells
Linkage (Genetics)
Male
Malignant Hyperthermia / genetics*
Molecular Sequence Data
Pedigree
Receptors, Cholinergic / genetics*
Repetitive Sequences, Nucleic Acid*
Ryanodine Receptor Calcium Release Channel
Chemical
Reg. No./Substance:
0/DNA, Satellite; 0/Genetic Markers; 0/Receptors, Cholinergic; 0/Ryanodine Receptor Calcium Release Channel

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