A linkage study of schizophrenia with DNA markers from chromosome 8p21-p22 in 25 multiplex families.
ABSTRACT Two recent genome-wide searches for linkage (Lasseter et al., 1994; Moises et al., 1995) suggested that a susceptibility gene for schizophrenia might be located at chromosome 8p21-p22. We attempted to replicate these findings by performing a linkage study of schizophrenia with four DNA markers from this region using 25 multiply affected families. Neither the lod score method nor non-prametric extended sib-pair analysis yielded any evidence for linkage, even under the assumption of locus heterogeneity. We conclude that there is unlikely to be a major gene in the 8p21-p22 region which confers susceptibility to schizophrenia in our set of families. However we cannot exclude the possibility of a major gene present in other families, or of a susceptibility gene with a moderate but widespread effect which we cannot detect.
- SourceAvailable from: hawaii.edu[Show abstract] [Hide abstract]
ABSTRACT: Schizophrenia is perhaps the most debilitating mental disease and determining the underlying cause has become a challenging area of psychiatric research. It is relatively well established that genes play a role in the aetiology of schizophrenia. In this article, a review of important findings related to schizophrenia as a genetic trait will be provided, including a discussion of family, twin and adoption studies. Molecular genetic studies of specific candidate genes are then reviewed. Some controversies within the literature are examined and possible directions for future research are discussed.Expert Reviews in Molecular Medicine 06/2002; 4(14):1-13. · 6.62 Impact Factor
- [Show abstract] [Hide abstract]
ABSTRACT: Trigonelline (N-methyl-3-carboxypyridinium inner salt, TRG) forms with squaric acid (H2SQ) and water three complexes with TRG:H2SQ:H2O ratios of 3:3:1 (1), 2:2:1 (2) and anhydrous 1:1 (3), which stoichiometry depends on the solvent used for recrystallization. Their structures have been determined by X-ray diffraction, DFT calculations and characterized by FTIR and NMR spectroscopy. Crystals 1 contain three hydrogen-bonded TRG–H2SQ complexes and one water molecule in the asymmetric unit of triclinic space group P1¯. Crystals 2 are monoclinic P21/c space group and contain two hydrogen-bonded TRG–H2SQ complexes and one water molecule. In complexes 1 and 2 water molecule play a role of proton-donors and proton-acceptors in hydrogen bonds. Crystal 3, obtained from 98% ethanol belongs to the monoclinic P21/n space group and has one TRG–H2SQ complex in the asymmetric unit. In the structures of 1–3 complexes there are several short asymmetric OH···O hydrogen bonds (2.428(1)–2.542(1)Å). FTIR spectra are dominated by a broad and intense absorption in the 1600–400cm−1 region, typical of such short hydrogen bonds. The structures of hydrate 2a and anhydrous 3a have been optimized at the B3LYP/6-31G(d,p) level of theory.Journal of Molecular Structure 01/2012; · 1.40 Impact Factor
Article: Esquizofrenia[Show abstract] [Hide abstract]
ABSTRACT: Neste artigo revisamos e resumimos os avanços atuais sobre o mapeamento de genes relacionados à esquizofrenia. Listamos as regiões de interesse identificadas até o momento e discutimos as dúvidas pertinentes, bem como as perspectivas para o sucesso futuro.Revista Brasileira de Psiquiatria 01/1999; · 1.86 Impact Factor