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Titolo:
Identification and analysis of new sequence variants in the human tryptophan hydroxylase (TpH) gene
Autore:
Paoloni-Giacobino, A; Mouthon, D; Lambercy, C; Vessaz, M; Coutant-Zimmerli, S; Rudolph, W; Malafosse, A; Buresi, C;
Indirizzi:
Univ Hosp Geneva, Dept Psychiat, Div Neuropsychiat, Geneva, Switzerland Univ Hosp Geneva Geneva Switzerland Neuropsychiat, Geneva, Switzerland
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 1, volume: 5, anno: 2000,
pagine: 49 - 55
SICI:
1359-4184(200001)5:1<49:IAAONS>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CEREBROSPINAL-FLUID; SUICIDAL-BEHAVIOR; AFFECTIVE-DISORDER; DEPRESSED-PATIENTS; SPLICE-SITE; POLYMORPHISM; ASSOCIATION; SUBSTITUTIONS; EXPRESSION; ALCOHOLISM;
Keywords:
tryptophan hydroxylase gene; polymorphism; psychiatric disorders;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Buresi, C Dept Psychiat, Div Neuropsychiat, 1 Ch Petit Bel Air, CH-1225 Chene Bourg,Switzerland Dept Psychiat 1 Ch Petit Bel Air Chene Bourg Switzerland CH-1225
Citazione:
A. Paoloni-Giacobino et al., "Identification and analysis of new sequence variants in the human tryptophan hydroxylase (TpH) gene", MOL PSYCHI, 5(1), 2000, pp. 49-55

Abstract

The tryptophan hydroxylase (TpH) gene codes for the rate-limiting enzyme in serotonin biosynthesis. It is one of the major candidate genes for psychiatric and behavioral disorders. A polymorphism in TpH intron 7 has been shown to be associated with suicidal attempts, aggressive behavior and psychiatric illnesses. By systematically screening the TpH genomic sequence, we identified and confirmed an earlier report of four Variants in the promoter region and localized six new sequence variants, ie two in intron 1b, one in exon 1c, one in intron 8, one in intron 9 and a microsatellite in the 3' region, 5687 bp downstream of the last exon 11. We analyzed these polymorphisms, as well as the one in intron 7, by Single Strand Conformation Analysis,microsatellite or restriction analysis in a collection of 175 West European Caucasian healthy subjects. The four Variants in the promoter region are in complete linkage disequilibrium (frequencies of G-T-G-T and T-C-A-G haplotypes are 0.41 and 0.59, respectively). Deletion of GTT in intron 1b is rare (0.7%) and so not informative. The rarer allele T of intron 1b polymorphism T3792A has a frequency of 0.34 and is in partial linkage disequilibriumwith the more common alleles of intron 7, 8 and 9. The polymorphisms of these three introns are in complete linkage disequilibrium and the frequencies of haplotypes A-T-C and C-C-T are 0.36 and 0.64 respectively. We detected10 different alleles in the microsatellite localized in the 3' region; allele '194' is in partial linkage disequilibrium with haplotype A-TC of introns 7, 8, and 9. Analysis of these different polymorphisms will constitute an important toot for future studies between the TpH gene and psychiatric disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 12:49:31