Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 theta = 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 theta = 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.
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PMID:Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. 142 85

Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5% using closely linked polymorphic DNA markers.
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PMID:Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level. 197 52