Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level
McCarthy, T.V.; Healy, J.M.; Lehane, M.; Heffron, J.J.
Acta Anaesthesiologica Belgica 41(2): 107-112
1990
ISSN/ISBN: 0001-5164 PMID: 1973552 Document Number: 356461
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.