| 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:
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PMID: 1427902 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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D E Iles; B Segers; L Heytens; R C Sengers; B Wieringa |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Genomics Volume: 14 ISSN: 0888-7543 ISO Abbreviation: Genomics Publication Date: 1992 Nov |
Date Detail:
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Created Date: 1992-12-17 Completed Date: 1992-12-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8800135 Medline TA: Genomics Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 749-54 Citation Subset: IM |
Affiliation:
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Department of Cell Biology and Histology, Catholic University of Nijmegen, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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0/DNA, Satellite; 0/Genetic Markers; 0/Receptors, Cholinergic; 0/Ryanodine Receptor Calcium Release Channel |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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