Systematic screening for mutations in the 5{prime}-regulatory region of the human dopamine D{sub 1} receptor (DRD1) gene in patients with schizophrenia and bipolar affective disorder

Journal Article · Fri Jul 26 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960726)67:4<424::AID-AJMG21>3.0.CO;2-K· OSTI ID:539398

Cichon, S; Noethen, M M; Stoeber, G ^[1]

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1. Univ. of Bonn (Germany); and others

A possible dysregulation of dopaminergic neurotransmission has been implicated in a variety of neuropsychiatric diseases. In the present study we systematically searched for the presence of mutations in the 5{prime}-flanking region of the dopamine D{sub 1} receptor (DRD1) gene. This region has previously been shown to contain a functional promoter. We investigated 119 unrelated individuals (including 36 schizophrenic patients, 38 bipolar affective patients, and 45 healthy controls) using single-strand conformation analysis (SSCA). Eleven overlapping PCR fragments covered 2,189 bp of DNA sequence. We identified six single base substitutions: -2218T/C, -2102C/A, -2030T/C, -1992G/A, -1251G/C, and -800T/C. None of the mutations was found to be located in regions which have important influence on the level of transcriptional activity. Allele frequencies were similar in patients and controls, indicating that genetic variation in the 5{prime}-regulatory region of the DRD1 gene is unlikely to play a frequent, major role in the genetic predisposition to either schizophrenia or bipolar affective disorder. 31 refs., 3 tabs.

• OSTI ID: 539398
• Journal Information: American Journal of Medical Genetics, Vol. 67, Issue 4; Other Information: PBD: 26 Jul 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DOPAMINE
RECEPTORS
DNA SEQUENCING
GENE MUTATIONS
TRANSCRIPTION
MUTATION FREQUENCY
GENE REPRESSORS
GENE REGULATION
MENTAL DISORDERS
ETIOLOGY
PATIENTS
NERVOUS SYSTEM DISEASES
HEREDITARY DISEASES
BEHAVIOR
POLYMERASE CHAIN REACTION
AMINO ACIDS
GTP-ASES
DNA-CLONING
CODONS
NUCLEOTIDES
RFLPS