PMID: 9541102Apr 16, 1998Paper

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

Journal of Medical Genetics
R RobinsonF Ellis

Abstract

Malignant hyperthermia (MH) is an autosomal dominant genetic condition that presents in susceptible people undergoing general anaesthesia. The clinical disorder is a major cause of anaesthetic morbidity and mortality. The UK Malignant Hyperthermia Group has performed genetic linkage analysis on 20 large, well defined malignant hyperthermia families, using hypervariable markers on chromosome 19q13.1, including the candidate MH gene RYR1, the gene coding for the skeletal muscle ryanodine receptor protein. The results were analysed using LINKAGE to perform two point and multipoint lod scores, then HOMOG to calculate levels of heterogeneity. The results clearly showed genetic heterogeneity between MH families; nine of the families gave results entirely consistent with linkage to the region around RYR1 while the same region was clearly excluded in three families. In the remaining eight MHS families there were single recombinant events between RYR1 and MH susceptibility. HOMOG analysis was of little added benefit in determining the likelihood of linkage to RYR1 in these families. This confirmation of the presence of heterogeneity in the UK MH population, along with the possibility of the presence of two MH genes in some pedigrees, in...Continue Reading

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Citations

Dec 11, 1999·Muscle & Nerve·K Jurkat-RottF Lehmann-Horn
Aug 4, 2009·British Journal of Anaesthesia·D CarpenterP M Hopkins
Nov 8, 2014·Clinical Pediatrics·Nwamaka Pamela Nnamani, David R Moss
Aug 6, 2000·British Journal of Anaesthesia·P M Hopkins
Apr 29, 2004·Anesthesiology·Thierry GirardAlbert Urwyler
Nov 5, 2017·Forensic Science, Medicine, and Pathology·Wenhe LiYiwu Zhou
Apr 18, 2003·European Journal of Human Genetics : EJHG·R L RobinsonC R Mueller
Jan 22, 2014·Anesthesia and Analgesia·Kathryn M Stowell
Dec 16, 1998·Current Opinion in Neurology·K Hogan
Nov 20, 2016·Temperature : Multidisciplinary Biomedical Journal·Jeremy StephensKathryn Stowell
Sep 28, 2001·British Journal of Anaesthesia·R L Robinson, P M Hopkins
Jun 18, 2002·British Journal of Anaesthesia·C BrooksP M Hopkins

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