Prospects for the diagnosis of malignant hyperthermia susceptibility using molecular genetic approaches

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

MHS is a heterogeneous pharmacogenetic disorder in the human that is likely to be caused by one of a variety of genetic defects, in one of a number of genes. Direct molecular methods will provide a rapid, efficient, noninvasive, and low-cost screening test once the causative genetic mutations have been identified. However, until this objective is met, indirect molecular genetic methods can be used to demonstrate the inheritance of an abnormal gene in certain family members at risk. This requires localizing the gene that produces the abnormal phenotype to a subchromosomal segment by linkage analysis and showing the coinheritance of MHS and DNA markers in a number of family members. Indirect molecular genetic methods are likely to be particularly useful in the diagnostic evaluation of children too small to be biopsied in families where others have been biopsied or their phenotypes are known. It appears likely that molecular genetic methods will not eliminate the usefulness of the muscle biopsy and caffeine-halothane contracture test in the near future. Rather, these diagnostic tests will complement one another and significantly improve our understanding of the complexity of this disorder.

Original languageEnglish
Pages (from-to)1039-1048
Number of pages10
JournalAnesthesiology
Volume76
Issue number6
StatePublished - Jan 1 1992
Externally publishedYes

Fingerprint

Malignant Hyperthermia
Molecular Biology
Genes
Phenotype
Pharmacogenetics
Contracture
Halothane
Caffeine
Genetic Markers
Routine Diagnostic Tests
Biopsy
Costs and Cost Analysis
Muscles
Mutation

Keywords

  • Complications: malignant hyperthermia susceptibility
  • Genetics: allele- specific oligonucleotide analysis; linkage; malignant hyperthermia susceptibility; mapping; molecular; polymerase chain reaction; restriction fragment length polymorphism

ASJC Scopus subject areas

  • Anesthesiology and Pain Medicine

Cite this

Prospects for the diagnosis of malignant hyperthermia susceptibility using molecular genetic approaches. / Levitt, Roy C.

In: Anesthesiology, Vol. 76, No. 6, 01.01.1992, p. 1039-1048.

Research output: Contribution to journalArticle

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