Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene

被引:39
作者
Cichon, S
Nothen, MM
Catalano, M
DiBella, D
Maier, W
Lichtermann, D
Minges, J
Albus, M
Borrmann, M
Franzek, E
Stober, G
Weigelt, B
Korner, J
Rietschel, M
Propping, P
机构
[1] DSNP, IST RICOVERO & CURA CARATTERE SCI H SAN RAFFAELE, I-20127 MILAN, ITALY
[2] UNIV MAINZ, DEPT PSYCHIAT, D-55131 MAINZ, GERMANY
[3] MENTAL STATE HOSP HAAR, D-85540 HAAR, GERMANY
[4] UNIV WURZBURG, DEPT PSYCHIAT, D-97080 WURZBURG, GERMANY
[5] TU DRESDEN, DEPT PSYCHIAT, D-01307 DRESDEN, GERMANY
[6] UNIV BONN, DEPT PSYCHIAT, D-53127 BONN, GERMANY
[7] UNIV BONN, INST HUMAN GENET, D-53111 BONN, GERMANY
关键词
association analysis; bipolar affective disorder; dopamine D4 receptor; mutation; obsessive-compulsive disorder; panic disorder; polymorphism; schizophrenia;
D O I
10.1097/00041444-199505030-00001
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report two novel polymorphisms and a rare deletion variant in the human dopamine 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 (II = 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.
引用
收藏
页码:97 / 103
页数:7
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