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Titolo:
Mutation and association analysis of the Fyn kinase gene with alcoholism and schizophrenia
Autore:
Ishiguro, H; Saito, T; Shibuya, H; Toru, M; Arinami, T;
Indirizzi:
Univ Tsukuba, Inst Basic Med Sci, Dept Med Genet, Tsukuba, Ibaraki 305, Japan Univ Tsukuba Tsukuba Ibaraki Japan 305 Genet, Tsukuba, Ibaraki 305, Japan Med Univ Sapporo, Dept Psychiat, Sapporo, Hokkaido, Japan Med Univ Sapporo Sapporo Hokkaido Japan ychiat, Sapporo, Hokkaido, Japan Natl Minamihanamaki Hosp, Iwate, Japan Natl Minamihanamaki Hosp Iwate Japan Minamihanamaki Hosp, Iwate, Japan Tokyo Med & Dent Univ, Sch Med, Dept Neuropsychiat, Tokyo 113, Japan TokyoMed & Dent Univ Tokyo Japan 113 pt Neuropsychiat, Tokyo 113, Japan
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 6, volume: 96, anno: 2000,
pagine: 716 - 720
SICI:
0148-7299(200012)96:6<716:MAAAOT>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYROSINE-KINASE; ETHANOL SENSITIVITY; SYNAPTIC TRANSMISSION; HEK-293 CELLS; MICE; ACAMPROSATE; DEPENDENCE; PLACEBO;
Keywords:
polymorphism; linkage; disequilibrium; promoter; intron;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Arinami, T Univ Tsukuba, Inst Basic Med Sci, Dept Med Genet, Tsukuba, Ibaraki 305, Japan Univ Tsukuba Tsukuba Ibaraki Japan 305 uba, Ibaraki 305, Japan
Citazione:
H. Ishiguro et al., "Mutation and association analysis of the Fyn kinase gene with alcoholism and schizophrenia", AM J MED G, 96(6), 2000, pp. 716-720

Abstract

Lack of Fyn tyrosine kinase increases alcohol sensitivity. Fyn phosphorylates a component of the NMDA receptor, which may be involved in schizophrenia. The Fyn gene is located on human chromosome 6q21, to which linkage of schizophrenia has been suggested. We hypothesized that the Fyn gene is a candidate for predisposition to alcoholism and schizophrenia, and we performed a mutation study of the 5'-flanking region, all coding exons, and exon-intron junctions of the Fyn gene. The SSCP mutation analysis was performed in 48 unrelated alcoholics and 16 unrelated schizophrenics. Three polymorphisms, -93A/G in the 5'-flanking region, IVS10+37T/C in intron 10, and Ex12+894T/G in the 3'-untranslated region, were identified. A rare variant of Ex12+1162TG in the 3'-untranslated region was also detected. Neither missense nornonsense mutations were found. Case-control studies using a larger sample of unrelated patients and controls did not reveal significant associations between these polymorphisms and alcoholism or schizophrenia. In addition, genotyping a microsatellite marker, D6S302, located in intron 10 of the Fyn gene, did not show a significant association between the marker and alcoholism or schizophrenia. Results of the present study did not provide evidencefor the involvement of the genomic Fyn gene mutations in alcoholism or schizophrenia. (C) 2000 Wiley-Liss, Inc.

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Documento generato il 12/07/20 alle ore 07:58:57