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

Abstract

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 dopamine-regulated proenkephalin A gene (chromosome 8q11.23-q12). We have screened 150 schizophrenic patients for sequence variations within the promoter region, entire coding sequence, and 3{prime}-untranslated region. We 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. 38 refs., 3 figs., 2 tabs.

Authors:
; ;  [1]
  1. Mayo Foundation and Mayo Graduate School, Rochester, MN (United States); and others
Publication Date:
OSTI Identifier:
539226
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 67; Journal Issue: 5; Other Information: PBD: 20 Sep 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; GENETIC MAPPING; DNA SEQUENCING; STRUCTURE-ACTIVITY RELATIONSHIPS; PATIENTS; HEREDITARY DISEASES; MENTAL DISORDERS; NERVOUS SYSTEM DISEASES; BEHAVIOR; PATHOLOGY; ETIOLOGY; HUMAN CHROMOSOME 8; DOPAMINE; AMINO ACID SEQUENCE; PEPTIDES; POLYMERASE CHAIN REACTION

Citation Formats

Mikesell, M J, Sommer, S S, and McMurray, C T. Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960920)67:5<459::AID-AJMG4>3.0.CO;2-F.
Mikesell, M J, Sommer, S S, & McMurray, C T. Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients. United States. https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<459::AID-AJMG4>3.0.CO;2-F
Mikesell, M J, Sommer, S S, and McMurray, C T. 1996. "Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients". United States. https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<459::AID-AJMG4>3.0.CO;2-F.
@article{osti_539226,
title = {Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients},
author = {Mikesell, M J and Sommer, S S and McMurray, C T},
abstractNote = {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 dopamine-regulated proenkephalin A gene (chromosome 8q11.23-q12). We have screened 150 schizophrenic patients for sequence variations within the promoter region, entire coding sequence, and 3{prime}-untranslated region. We 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. 38 refs., 3 figs., 2 tabs.},
doi = {10.1002/(SICI)1096-8628(19960920)67:5<459::AID-AJMG4>3.0.CO;2-F},
url = {https://www.osti.gov/biblio/539226}, journal = {American Journal of Medical Genetics},
number = 5,
volume = 67,
place = {United States},
year = {Fri Sep 20 00:00:00 EDT 1996},
month = {Fri Sep 20 00:00:00 EDT 1996}
}