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Dopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophrenia
N Griffon1, M A Crocq, C Pilon
1Unité de Neurobiologie et Pharmacologie, Centre Paul Broca l'INSERM, Paris, France.
American Journal of Medical Genetics
|February 16, 1996
Summary
The dopamine D3 receptor gene (DRD3) structure was analyzed, revealing its exon-intron organization and transcript variants. The Bal I polymorphism is associated with schizophrenia and early onset, particularly in males, while Msp I shows no such link.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The human dopamine D3 receptor gene (DRD3) plays a crucial role in neurological functions.
- Understanding the genetic structure and polymorphisms of DRD3 is important for studying psychiatric disorders.
Purpose of the Study:
- To establish the partial structure of the human dopamine D3 receptor gene (DRD3).
- To investigate the association of DRD3 polymorphisms (Msp I and Bal I) with schizophrenia and age of onset.
Main Methods:
- DNA fragments from a genomic library were used to determine the DRD3 gene structure.
- RT-PCR and Southern blotting were employed to detect DRD3 transcripts and analyze polymorphisms.
- A PCR-based method was developed for genotyping the Msp I polymorphism.
Main Results:
- The DRD3 gene contains 6 exons spanning over 40,000 base pairs, with complete and shorter transcript variants detected.
- The Bal I polymorphism showed a significant association with schizophrenia and an earlier age of onset, especially in males.
- The Msp I polymorphism, located distantly in the 3' region, did not show significant association with schizophrenia.
Conclusions:
- The Bal I polymorphism within the DRD3 gene is a potential genetic marker for schizophrenia and its early onset.
- The lack of association for the Msp I polymorphism may be due to its distance from the Bal I site and location in the 3' region.