Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level
- PMID: 1973552
Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level
Abstract
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.
Similar articles
-
Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.BMJ. 1991 Nov 16;303(6812):1225-8. doi: 10.1136/bmj.303.6812.1225. BMJ. 1991. PMID: 1684123 Free PMC article.
-
Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.Nature. 1990 Feb 8;343(6258):562-4. doi: 10.1038/343562a0. Nature. 1990. PMID: 2300206
-
Genetic analysis with calcium-induced calcium release test in Japanese malignant hyperthermia susceptible (MHS) families.Hiroshima J Med Sci. 1999 Mar;48(1):9-15. Hiroshima J Med Sci. 1999. PMID: 10213958
-
Molecular analysis of human muscular dystrophies.Muscle Nerve. 1987 Mar-Apr;10(3):191-9. doi: 10.1002/mus.880100302. Muscle Nerve. 1987. PMID: 2882417 Review.
-
Malignant hyperthermia.Semin Pediatr Surg. 1992 Feb;1(1):88-95. Semin Pediatr Surg. 1992. PMID: 1345475 Review.
Cited by
-
Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.BMJ. 1991 Nov 16;303(6812):1225-8. doi: 10.1136/bmj.303.6812.1225. BMJ. 1991. PMID: 1684123 Free PMC article.
-
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.J Mol Neurosci. 2003;21(1):35-42. doi: 10.1385/JMN:21:1:35. J Mol Neurosci. 2003. PMID: 14500992