Dopamine β€-hydroxylase (E.C. 1.14.17.1; protein abbreviation: Dβ€H) catalyzes conversion of dopamine to norepinephrine. Previous work identified two expressed alleles of the gene encoding Dβ€H (locus symbol DBH), containing either G or T at nucleotide position 910, resulting in specification by codon
No evidence for allelic association between schizophrenia and a functional variant of the human dopamine ?-hydroxylase gene (DBH)
β Scribed by Williams, H.J.; Bray, N.; Murphy, K.C.; Cardno, A.G.; Jones, L.A.; Owen, M.J.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 7 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991015)88:5<557::aid-ajmg22>3.0.co;2-f
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β¦ Synopsis
Dopamine β€-hydroxylase (DBH), the enzyme that converts dopamine to norepinepherine, has been proposed as being involved in the aetiology of schizophrenia. Previous work identified a functional polymorphism at nucleotide 910 of the DBH gene that results in a codon change in the mature protein Ala304Ser, with the mutant allele being associated with a lower enzymatic activity. In this study we performed an RFLP analysis in an association study consisting of 178 unrelated schizophrenic patients and 178 unrelated control subjects, matched for age, sex, and ethnicity. The frequency of the Ser304 DBH allele was 0.10 in the patient group and 0.08 in the control group, with no significant allelic or genotypic association observed. Therefore, we were unable to obtain evidence that this polymorphism contributes directly to susceptibility to schizophrenia.
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