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

✍ Scribed by Kato, Tadafumi; Wang, Zhe Wu; Zoega, Tomas; Crowe, Raymond R.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 471 KB
Volume: 67
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960726)67:4<401::aid-ajmg14>3.0.co;2-n

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✦ Synopsis

Cholecystokinin tetrapeptide (CCKJ 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 CCK, gene in 22 probands of panic disorder pedigrees, using single-strand conformation polymorphism (SSCP) analysis. T w o 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, Val'25 + 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 (3134) and 4.4% in controls (W112). 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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