✦ LIBER ✦

Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients

✍ Scribed by Mikesell, M. J.; Sobell, J. L.; Sommer, S. S.; McMurray, C. T.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 868 KB
Volume: 67
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960920)67:5<459::aid-ajmg4>3.0.co;2-f

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✦ Synopsis

Schizophrenia is a complex and severe disorder of unknown cause and pathophysiology. In this study, we examined the opioid hypothesis for schizophrenia at the molecular level, focusing on the dopamineregulated proenkephalin A gene (chromosome 8q11.23-ql2). W e have screened 150 schizophrenic patients for sequence variations within the promoter region, entire coding sequence, and 3'-untranslated region. W e find one sequence change in a conserved amino acid that may be of functional significance. This mutation was found in a single schizophrenia patient but not in controls. Although several new, race-specific polymorphisms were identified, all other sequence changes appeared to be common polymorphisms, unlikely to contribute to the etiology of schizophrenia.

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