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.
author: McCarthy, Tommie V., Heffron, James J.A., Lehane, Mary, Manning, Bernadette M., Quane, Kathleen A., Ording, Helle, Urwyler, Albert, Tegazzin, Vincenzo, O'Halloran, John, Hartung, Edmund, Giblin, Linda M., Lynch, Patrick J., Vaughan, Pat, Censier, Kathrin, Bendixen, Diana, Comi, Giacomo, Heytens, Luc, Monsieurs, Koen, Fagerlund, Tore, Wolz, Werner, Muller, Clemens R.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
United Kingdom, Denmark, Germany, Switzerland, Belgium, Norway, Caffeine, Malignant hyperthermia
Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity
Article Abstract:
Attention-deficit hyperactivity disorder (ADHD) in children is discussed as it relates to association/linkage of the dopamine transporter gene and to study of a sample made up of 122 families with 122 children who had been referred to clinics for behavioral and learning problems, some of which were ADHD. Heterogeneity was found, based on severity and diagnostic subtype, with relation of DAT1 to ADHD increasing monotonically, from low to medium to high levels of severity of symptoms, but the study has some limitations which should be considered.
author: Waldman, I.D., Rowe, D.C., Abramowitz, A., Kozel, S.T., Mohr, J.H., Sherman, S.L., Cleveland, H.H., Sanders, M.L., Gard, J.M.C., Stever, C.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Psychological aspects, Standards, Planning, Behavior disorders in children, Childhood mental disorders, Attention-deficit hyperactivity disorder, Attention deficit hyperactivity disorder, Dopamine, Psychiatric research, Genetic research, Experimental design, Research design, Twins, Medical statistics, Linkage (Genetics)
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
Article Abstract:
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH), a rare genetic defect characterized by genetic absence of the patella or marked reduction of it, is discussed. The gene localized to chromosome 17q21-22 after PTLAH was isolated in an extended Venezuelan family and a genomewide scan was carried out.
author: Capon, Francesca, Mangino, Massimo, Sanchez, Otto, Torrente, Isabella, De Luca, Alessandro, Novelli, Guiseppe, Dalllapiccola, Bruno
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Venezuela, Patella
subjects list: Research, Italy, United States, Usage, Genetic aspects, Chromosome mapping, Genetic disorders, Statistical Data Included
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.