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dc.contributor.authorKato, T
dc.contributor.authorWang, Z W
dc.contributor.authorZoega, T
dc.contributor.authorCrowe, R R
dc.date.accessioned2010-10-01T11:23:45Z
dc.date.available2010-10-01T11:23:45Z
dc.date.issued1996-07-26
dc.date.submitted2010-11-01
dc.identifier.citationAm. J. Med. Genet. 1996, 67(4):401-5en
dc.identifier.issn0148-7299
dc.identifier.pmid8837709
dc.identifier.doi10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.0.CO;2-N
dc.identifier.urihttp://hdl.handle.net/2336/112224
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractCholecystokinin tetrapeptide (CCK4) is known to induce panic attacks in patients with panic disorder at a lower dose than in normal controls. Therefore, the cholecystokinin B (CCKB) receptor gene is a candidate gene for panic disorder. We searched for mutations in the CCKB 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-->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-->A, Val125-->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.
dc.language.isoenen
dc.publisherWiley-Liss Incen
dc.relation.urlhttp://dx.doi.org/10.1002/(SICI)1096-8628(19960726)67:4<401::AID-AJMG14>3.0.CO;2-Nen
dc.subject.meshAdulten
dc.subject.meshAmino Acid Sequenceen
dc.subject.meshDNA Primersen
dc.subject.meshExonsen
dc.subject.meshFamilyen
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshPanic Disorderen
dc.subject.meshPedigreeen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshPolymorphism, Single-Stranded Conformationalen
dc.subject.meshReceptor, Cholecystokinin Ben
dc.subject.meshReceptors, Cholecystokininen
dc.subject.meshReference Valuesen
dc.subject.meshTetragastrinen
dc.titleMissense mutation of the cholecystokinin B receptor gene: lack of association with panic disorderen
dc.typeArticleen
dc.contributor.departmentDepartment of Psychiatry, University of Iowa College of Medicine, Iowa City 52242-1000, USA.en
dc.identifier.journalAmerican journal of medical geneticsen
html.description.abstractCholecystokinin tetrapeptide (CCK4) is known to induce panic attacks in patients with panic disorder at a lower dose than in normal controls. Therefore, the cholecystokinin B (CCKB) receptor gene is a candidate gene for panic disorder. We searched for mutations in the CCKB 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-->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-->A, Val125-->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.


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