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Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16.
Riess, O; Thies, U; Siedlaczck, I; Potisek, S; Graham, R; Theilmann, J; Grimm, T; Epplen, J T; Hayden, M R.
Afiliação
  • Riess O; Molecular Human Genetics, Ruhr University, Bochum, Federal Republic of Germany.
Genomics ; 19(2): 298-302, 1994 Jan 15.
Article em En | MEDLINE | ID: mdl-8188260
ABSTRACT
The gene encoding the brain alpha 2-adrenergic receptor (ADRA2C) is located on human chromosome 4. It has been circumstantially associated with a number of human disorders, including Parkinson disease, panic disorders, and Huntington disease (HD). Using somatic cell hybrids, we localized the gene to chromosome 4p16 distal to P8 (D4S62). To investigate this locus further, we isolated several cosmid clones covering the entire gene. The gene was found to be intronless. Two (GT)n repeats in close proximity to the ADRAC2 gene were analyzed and used to define its precise location. Linkage disequilibrium studies of one microsatellite in HD families showed strong nonrandom association to the HD mutation, indicating its tight linkage to the HD gene. The investigation of families carrying recombinant chromosomes, pulsed-field analysis, and genomic walking mapped the ADRA2C gene adjacent to D4S81, 500 kb proximal to the HD gene. The newly defined microsatellites at the ADRAC2 locus, its precise localization within 4p16, and the detailed PCR conditions facilitate the identification of any defect caused by this gene.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Receptores Adrenérgicos alfa / Genes Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 1994 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Receptores Adrenérgicos alfa / Genes Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 1994 Tipo de documento: Article