Abstracts

Biological sciences

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation

Article Abstract:

Malignant hyperthermia (MH) is a pharmacogenetic disorder triggered by common muscle relaxants and anesthetics in those who are genetically predisposed. In a number of MH kindreds the ryanodine receptor (RYR1) is mutated and some family members have central core disease (CCD). Mutation screening of 6kb of the RYR1 gene has found four adjacent novel mutations, which bring amino acid alterations. Taken together the mutations account for 11% of MH cases. The gene segment 6500-6700 has been identified as a probable mutation site. Based on correlation analysis of in vitro contracture-test data, there is good correlation between caffeine threshold and tension values.

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The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr (ital) gene by cDNA and genomic sequencing

Article Abstract:

The mappinf of the gene for hypotrichosis of Marie Unna, an autosomal dominant hair-loss disorder with childhood onset, to a locus between D8S258 and D8S298 and exclusion of the hr (ital) gene by genomic and cDNA sequencing are discussed. A genomwide search was carried out in a large Dutch family with 400 fluorescent microsatellite markers used, and a British kindred was analyzed with additional markers in the region.

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