| Автор | Nöthen, Markus M. |
| Автор | Cichon, Sven |
| Автор | Hemmer, Susanne |
| Автор | Hebebrand, Johannes |
| Автор | Remschmidt, Helmut |
| Автор | Lehmkuhl, Gerd |
| Автор | Poustka, Fritz |
| Автор | Schmidt, Martin |
| Автор | Catalano, Marco |
| Автор | Fimmers, Rolf |
| Автор | Kömer, Judith |
| Автор | Rletschel, Marcella |
| Автор | Propping, Peter |
| Дата выпуска | 1994 |
| dc.description | We report a null mutation in the first exon of the human dopamlne D4 receptor (DRD4) gene. The mutation Is predicted to result in a truncated non-functional protein and is the first natural nonsense mutation found In a human dopamlne receptor gene. It occurs with a frequency of about 2% in the general population. The distribution of the mutation was found to be similar In healthy controls and patients suffering from psychiatric diseases which included schizophrenia, bipolar affective disorder and Tourette's syndrome, indicating that heterozygosity for this mutation in the DRD4 gene is not causally related to major psychiatric diseases. We also Identified an adult male who Is homozygous for this mutation. He shows no symptoms of major psychiatric illness, but he displays somatic ailments Including acousticous neurInoma, obesity and some disturbances of the autonomic nervous system. Some of these symptoms might be related to the absence of functional DRD4 protein. |
| Формат | application.pdf |
| Издатель | Oxford University Press |
| Копирайт | © 1994 Oxford University Press |
| Тема | REPORTS |
| Название | Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity |
| Тип | other |
| Electronic ISSN | 1460-2083 |
| Print ISSN | 0964-6906 |
| Журнал | Human Molecular Genetics |
| Том | 3 |
| Первая страница | 2207 |
| Последняя страница | 2212 |
| Аффилиация | Institute of Human Genetics, University of BonnWilhelmstraBe 31, 53111 Bonn |
| Аффилиация | Hebebrand Johannes; Department of Child and Adolescent Psychiatry, University of Marburg |
| Аффилиация | Remschmidt Helmut; Department of Child and Adolescent Psychiatry, University of Marburg |
| Аффилиация | Lehmkuhl Gerd; Department of Child and Adolescent Psychiatry, University of Cologne |
| Аффилиация | Poustka Fritz; Department of Child and Adolescent Psychiatry, University of Frankfurt/Main |
| Аффилиация | Schmidt Martin; Department of Child and Adolescent Psychiatry, Zentralinstitut für Seelische Gesundheit, Mannheim |
| Аффилиация | Catalano Marco; Psychiatric Branch, Department of Neuropsychiatric Sciences, University of Milan Medical School |
| Аффилиация | Fimmers Rolf; Institute for Medical Statistics, University of Bonn |
| Аффилиация | Kömer Judith; Department of Psychiatry, University of Bonn |
| Аффилиация | Rletschel Marcella; Department of Psychiatry, University of Bonn |
| Выпуск | 12 |
