title: Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene.
abstract: We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 coding for amino acids Ala-Ala-Leu-Val-Gly-Gly-Val located in the first transmembrane domain of the dopamine D4 receptor. The mutation was identified in a single individual suffering from obsessive-compulsive disorder and panic disorder. We were unable to detect the deletion in patients with schizophrenia and bipolar affective disorder, nor in healthy controls.
authors: Institute of Human Genetics, University of Bonn, Germany.
authors: S
authors: S
authors: Cichon
authors: M M
authors: MM
authors: Nöthen
authors: M
authors: M
authors: Catalano
authors: D
authors: D
authors: Di Bella
authors: W
authors: W
authors: Maier
authors: D
authors: D
authors: Lichtermann
authors: J
authors: J
authors: Minges
authors: M
authors: M
authors: Albus
authors: M
authors: M
authors: Borrmann
authors: E
authors: E
authors: Franzek
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics; D003062:Codon / Q000235:genetics; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D017931:DNA Primers; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008875:Middle Aged; D008969:Molecular Sequence Data; D009771:Obsessive-Compulsive Disorder / Q000235:genetics; D016584:Panic Disorder / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D017448:Receptors, Dopamine D2 / Q000235:genetics*; D050638:Receptors, Dopamine D4; D012016:Reference Values; D012091:Repetitive Sequences, Nucleic Acid; D012559:Schizophrenia / Q000235:genetics; D017384:Sequence Deletion
chemical_list: D003062:Codon; D017931:DNA Primers; C493599:DRD4 protein, human; D017448:Receptors, Dopamine D2; D050638:Receptors, Dopamine D4; D004247:DNA