Mutation scan of the D1 dopamine receptor gene in 22 cases of bipolar I disorder

Journal Article · Mon Apr 24 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320600212· OSTI ID:393897

Shah, M; Coon, H; Holik, J; Hoff, M ^[1]

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1. Univ. of Utah School of Medicine, Salt Lake City, UT (United States); and others

In a previous study we found suggestive evidence of linkage between manic-depressive illness (MDI) in eight multiplex pedigrees and D5S62, a DNA marker mapping to the telomeric region of 5q. As the D1 dopamine receptor gene (DRDI) maps to this region and as alterations in dopaminergic neurotransmission have been indirectly implicated in the pathogenesis of MDI, we directly searched for mutations in the coding region of the DRDI gene in 22 unrelated cases of bipolar I (BPI) disorder derived from multiplex families. Using single strand conformation polymorphism (SSCP) analysis, we did not observe any abnormal SSCP variants in the BPI cases that differed from controls. 30 refs., 1 fig.

• Sponsoring Organization: USDOE
• OSTI ID: 393897
• Journal Information: American Journal of Medical Genetics, Vol. 60, Issue 2; Other Information: PBD: 24 Apr 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENES
GENETIC MAPPING
GENE MUTATIONS
RECEPTORS
DOPAMINE
MENTAL DISORDERS
PATHOGENESIS
PATIENTS
BEHAVIOR
HEREDITARY DISEASES
HUMAN CHROMOSOME 5
DETECTION
BIOLOGICAL MARKERS