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Title: Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder

Abstract

Cholecystokinin tetrapeptide (CCK{sub 4}) is known to induce panic attacks in patients with panic disorder at a lower dose than in normal controls. Therefore, the cholecystokinin B (CCK{sub B}) receptor gene is a candidate gene for panic disorder. We searched for mutations in the CCK{sub B} gene in 22 probands of panic disorder pedigrees, using single-strand conformation polymorphism (SSCP) analysis. Two polymorphisms were detected. A polymorphism in an intron (2491 C{yields}A) between exons 4 and 5 was observed in 10 of 22 probands. A missense mutation in the extracellular loop of exon 2 (1550 G{yields}A, Val{sup 125}{yields}Ile) was found in only one proband. This mutation was also examined in additional 34 unrelated patients with panic disorder and 112 controls. The prevalence rate of this mutation was 8.8% in patients with panic disorder (3/34) and 4.4% in controls (5/112). The mutation did not segregate with panic disorder in two families where this could be tested. These results suggest no pathophysiological significance of this mutation in panic disorder. 21 refs., 4 figs., 1 tab.

Authors:
; ;  [1];  [2]
  1. Univ. of Iowa College of Medicine, Iowa City, IA (United States)
  2. National Univ. Hospital, Reykjavik (Iceland)
Publication Date:
OSTI Identifier:
539391
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 67; Journal Issue: 4; Other Information: PBD: 26 Jul 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENE MUTATIONS; DETECTION; PATIENTS; HEREDITARY DISEASES; MENTAL DISORDERS; BEHAVIOR; PEPTIDES; RECEPTORS; DNA SEQUENCING; GENETIC MAPPING; SPLICING; HUMAN CHROMOSOMES; GENETICS; NUCLEOTIDES; EXONS; AMINO ACIDS; INTRONS; STATISTICS; BIOLOGICAL MARKERS

Citation Formats

Kato, Tadafumi, Wang, Zhe Wu, Crowe, R.R., and Zoega, T. Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.3.CO;2-U.
Kato, Tadafumi, Wang, Zhe Wu, Crowe, R.R., & Zoega, T. Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder. United States. doi:10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.3.CO;2-U.
Kato, Tadafumi, Wang, Zhe Wu, Crowe, R.R., and Zoega, T. Fri . "Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder". United States. doi:10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.3.CO;2-U.
@article{osti_539391,
title = {Missense mutation of the cholecystokinin B receptor gene: Lack of association with panic disorder},
author = {Kato, Tadafumi and Wang, Zhe Wu and Crowe, R.R. and Zoega, T.},
abstractNote = {Cholecystokinin tetrapeptide (CCK{sub 4}) is known to induce panic attacks in patients with panic disorder at a lower dose than in normal controls. Therefore, the cholecystokinin B (CCK{sub B}) receptor gene is a candidate gene for panic disorder. We searched for mutations in the CCK{sub B} gene in 22 probands of panic disorder pedigrees, using single-strand conformation polymorphism (SSCP) analysis. Two polymorphisms were detected. A polymorphism in an intron (2491 C{yields}A) between exons 4 and 5 was observed in 10 of 22 probands. A missense mutation in the extracellular loop of exon 2 (1550 G{yields}A, Val{sup 125}{yields}Ile) was found in only one proband. This mutation was also examined in additional 34 unrelated patients with panic disorder and 112 controls. The prevalence rate of this mutation was 8.8% in patients with panic disorder (3/34) and 4.4% in controls (5/112). The mutation did not segregate with panic disorder in two families where this could be tested. These results suggest no pathophysiological significance of this mutation in panic disorder. 21 refs., 4 figs., 1 tab.},
doi = {10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.3.CO;2-U},
journal = {American Journal of Medical Genetics},
number = 4,
volume = 67,
place = {United States},
year = {Fri Jul 26 00:00:00 EDT 1996},
month = {Fri Jul 26 00:00:00 EDT 1996}
}