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Systematic screening for mutations in the promoter and the coding region of the 5‐HT1A gene

Systematic screening for mutations in the promoter and the coding region of the 5‐HT1A gene In the present study we sought to identify genetic variation in the 5‐HT1A receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette's syndrome, as well as 25 healthy controls) were investigated by single‐strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5′ untranslated region of the 5‐HT1A gene. The region upstream to the coding sequence we investigated contains a functional promoter. We found two rare nucleotide sequence variants. Both mutations are located in the coding region of the gene: a coding mutation (A→G) in nucleotide position 82 which leads to an amino acid exchange (Ile→Val) in position 28 of the receptor protein and a silent mutation (C→T) in nucleotide position 549. The occurrence of the Ile‐28‐Val substitution was studied in an extended sample of patients (n = 352) and controls (n = 210) but was found in similar frequencies in all groups. Thus, this mutation is unlikely to play a significant role in the genetic predisposition to the diseases investigated. In conclusion, our study does not provide evidence that the 5‐HT1A gene plays either a major or a minor role in the genetic predisposition to schizophrenia, bipolar affective disorder, or Tourette's syndrome. © 1995 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Systematic screening for mutations in the promoter and the coding region of the 5‐HT1A gene

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References (31)

Publisher
Wiley
Copyright
Copyright © 1995 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320600509
pmid
8546152
Publisher site
See Article on Publisher Site

Abstract

In the present study we sought to identify genetic variation in the 5‐HT1A receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette's syndrome, as well as 25 healthy controls) were investigated by single‐strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5′ untranslated region of the 5‐HT1A gene. The region upstream to the coding sequence we investigated contains a functional promoter. We found two rare nucleotide sequence variants. Both mutations are located in the coding region of the gene: a coding mutation (A→G) in nucleotide position 82 which leads to an amino acid exchange (Ile→Val) in position 28 of the receptor protein and a silent mutation (C→T) in nucleotide position 549. The occurrence of the Ile‐28‐Val substitution was studied in an extended sample of patients (n = 352) and controls (n = 210) but was found in similar frequencies in all groups. Thus, this mutation is unlikely to play a significant role in the genetic predisposition to the diseases investigated. In conclusion, our study does not provide evidence that the 5‐HT1A gene plays either a major or a minor role in the genetic predisposition to schizophrenia, bipolar affective disorder, or Tourette's syndrome. © 1995 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Sep 9, 1995

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