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

Journal Article · Fri Sep 20 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<459::AID-AJMG4>3.0.CO;2-F· OSTI ID:539226

Mikesell, M J; Sommer, S S; McMurray, C T ^[1]

---

1. Mayo Foundation and Mayo Graduate School, Rochester, MN (United States); and others

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.

• OSTI ID: 539226
• Journal Information: American Journal of Medical Genetics, Vol. 67, Issue 5; Other Information: PBD: 20 Sep 1996
• Country of Publication: United States
• Language: English

Related Subjects

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