The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia.

Wittekindt, O; Jauch, A; Burgert, E; Schärer, L; Holtgreve-Grez, H; Yvert, G; Imbert, G; Zimmer, J; Hoehe, M R; Macher, J P; Chiaroni, P; van Calker, D; Crocq, M A; Morris-Rosendahl, D J

Wittekindt, O; Jauch, A; Burgert, E; Schärer, L; Holtgreve-Grez, H; Yvert, G; Imbert, G; Zimmer, J; Hoehe, M R; Macher, J P; Chiaroni, P; van Calker, D; Crocq, M A; Morris-Rosendahl, D J.

Afiliación

Wittekindt O; Institut für Humangenetik and Anthropologie, Universität Freiburg, Germany.

Neurogenetics ; 1(4): 259-65, 1998 Aug.

Article en En | MEDLINE | ID: mdl-10732800

RESUMEN

Mutations in various ion channel genes are responsible for neuromuscular and other neurological disorders. We have previously identified the human small conductance calcium-activated potassium channel gene (hSKCa3) which has two tandemly arranged CAG repeats in its 5' region. Here we have isolated the first genomic clones containing the gene and have shown that both repeats are in exon 1. Homology to the previously localized sequence tagged site G16005 indicated that the gene may be on chromosome 22q, however using polymerase chain reaction amplification of somatic cell hybrid DNA and fluorescence in situ hybridization of two P1 artificial chromosome clones, we physically localized the gene to chromosome 1q21.3. We previously found an association between the highly polymorphic second (more 3') CAG repeat and schizophrenia in 98 patients and 117 controls. We have now genotyped an additional 19 patients with schizophrenia and have performed statistical analyses on the entire group of patients and controls to investigate the possible effect of age of onset, family history, and gender of the patients on the observed association. None of these factors were found to influence the results. Both CAG repeats have been typed in 86 bipolar I disorder patients, and no significant difference in allele distribution was observed between our bipolar disorder patients and controls.

Asunto(s)

Cromosomas Humanos Par 1/genética; Ligamiento Genético/genética; Canales de Potasio Calcio-Activados; Canales de Potasio/genética; Esquizofrenia/genética; Repeticiones de Trinucleótidos/genética; Animales; Bacteriófago P1/genética; Secuencia de Bases/genética; Trastorno Bipolar/genética; Clonación Molecular; Cricetinae; Exones/genética; Frecuencia de los Genes; Pruebas Genéticas; Genotipo; Humanos; Células Híbridas/citología; Hibridación Fluorescente in Situ; Datos de Secuencia Molecular; Mapeo Físico de Cromosoma; Reacción en Cadena de la Polimerasa; Canales de Potasio/aislamiento & purificación; Canales de Potasio de Pequeña Conductancia Activados por el Calcio; Expansión de Repetición de Trinucleótido/genética

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esquizofrenia / Cromosomas Humanos Par 1 / Canales de Potasio / Repeticiones de Trinucleótidos / Canales de Potasio Calcio-Activados / Ligamiento Genético Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 1998 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos

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