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A structural polymorphism of human dopamine D2 receptor, D2(Ser311-->Cys)
M Itokawa1, T Arinami, N Futamura
1Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan.
Biochemical and Biophysical Research Communications
|November 15, 1993
Summary
A novel dopamine D2 receptor (DRD2) gene mutation, Cys311, was identified in schizophrenic patients. This DRD2 variant showed a trend towards earlier onset and family history in schizophrenia cases.
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- The dopamine D2 receptor (DRD2) gene is implicated in mental disorders.
- No structural changes in DRD2 have been previously reported.
Purpose of the Study:
- To identify genetic variations in the DRD2 gene associated with schizophrenia.
- To investigate the potential role of a specific DRD2 mutation in schizophrenia pathogenesis.
Main Methods:
- DNA sequencing of the DRD2 gene in 50 individuals with schizophrenia.
- Analysis of allele frequency of identified mutations in patients and 110 healthy controls.
Main Results:
- A missense mutation (C to G) at codon 311 was identified, resulting in a serine to cysteine substitution (Cys311).
- The Cys311 allele frequency was 0.04 in schizophrenics and 0.023 in controls, a non-significant increase.
- Schizophrenia patients with the Cys311 allele exhibited a tendency towards earlier age of onset and a positive family history.
Conclusions:
- The identified Cys311 mutation in the DRD2 gene may be associated with schizophrenia.
- Further research is warranted to elucidate the functional impact of this DRD2 variant on schizophrenia development.