Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q
Genomics, Volume 14, No. 3, Year 1992
Notification
URL copied to clipboard!
Description
Malignant hyperthermia susceptibility is a lethal autosomal dominant disorder of skeletal muscle metabolism that is triggered by all potent inhalation anesthetic gases. Recent linkage studies suggest a genetic locus for this disorder on 19q13.1. We have previously reported three unrelated families diagnosed with MHS that are unlinked to markers surrounding this locus on 19q13.1. In this report we extend these observations and present linkage studies on 16 MHS families. Four families (25%) were found linked to the region 19q12-q13.2 (Zmax = 2.96 with the ryanodine receptor at θ = 0.0). Five families (31%) were found closely linked to the anonymous marker NME1 (previously designated NM23) on chromosome 17q11.2-q24 (Zmax = 3.26 at θ = 0.0). Two families (13%) were clearly unlinked to either of these chromosomal regions. In five additional families, data were insufficient to determine their linkage status (they were potentially linked to two or more sites). The results of our heterogeneity analyses are consistent with the hypothesis that MHS can be caused in humans by any one of at least three distinct genetic loci. Furthermore, we provide preliminary linkage data suggesting the localization of a gene in human MHS to 17q11.2-q24 (MHS2), with a gene frequency of this putative locus approximately equal to that of the MHS1 locus on 19q. © 1992 Academic Press, Inc. All rights reserved.
Authors & Co-Authors
Levitt, R. C.
United States, Baltimore
Johns Hopkins Medical Institutions
Olckers, Antonel
United States, Baltimore
Johns Hopkins Medical Institutions
United States, Philadelphia
Drexel University College of Medicine
Meyers, S.
United States, Baltimore
Johns Hopkins Medical Institutions
Fletcher, J. E.
South Africa, Pretoria
University of Pretoria
Rosenberg, H.
South Africa, Pretoria
University of Pretoria
Isaacs, Hyam
South Africa, Johannesburg
University of the Witwatersrand
Meyers, D. A.
United States, Baltimore
Johns Hopkins Medical Institutions
Statistics
Citations: 128
Authors: 7
Affiliations: 4
Identifiers
Doi:
10.1016/S0888-7543(05)80152-1
ISSN:
08887543
e-ISSN:
10898646
Research Areas
Cancer
Genetics And Genomics