Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a.

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Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family H. Rueffert, D. Olthoff, C. Deutrich, B. Thamm, U.G. Froster British Journal of Anaesthesia Volume 87, Issue 2, Pages 240-245 (August 2001) DOI: 10.1093/bja/87.2.240 Copyright © 2001 British Journal of Anaesthesia Terms and Conditions

Fig 1 Restriction enzyme analysis. The identification of the Arg614Cys mutation is represented by the appearance of the 719-bp fragment in the gel electrophoresis. The index patient (II:3) and his sister (II:9) are homozygous for this mutation (loss of the 166-bp fragment). The parents and the remaining siblings are heterozygous carriers. Band A indicates the normal type, band B the undigested 918-bp sequence of the RYR 1 gene. The 12 bp and 2 bp fragments are not visible. British Journal of Anaesthesia 2001 87, 240-245DOI: (10.1093/bja/87.2.240) Copyright © 2001 British Journal of Anaesthesia Terms and Conditions

Fig 2 Sequencing of the gene segment for the ryanodine receptor with the suspected Arg614Cys (1840C→T) mutation. A complete C to T transition in both alleles (homozygous inheritance) was identified in the index patient; the parents carried the mutation in a heterozygous state. British Journal of Anaesthesia 2001 87, 240-245DOI: (10.1093/bja/87.2.240) Copyright © 2001 British Journal of Anaesthesia Terms and Conditions

Fig 3 Prevalence of the RYR1 mutation Arg614Cys in the MH family investigated. The figure shows the results of molecular genetic screening and IVCT. Filled symbols denote persons tested with the IVCT and typed as MHS, opened symbols denote persons tested and typed as MHN, open symbols with question mark denote untested family members. Genotype: +/+, homozygous mutation carrier; +/–, heterozygous mutation carrier; –/–, absence of the mutation. Individual II:3 (arrow) is the index patient who had a MH event. British Journal of Anaesthesia 2001 87, 240-245DOI: (10.1093/bja/87.2.240) Copyright © 2001 British Journal of Anaesthesia Terms and Conditions