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abstract::Since 1969, several classical linkage studies suggested an X-chromosome locus for bipolar affective disorder. However, methods using highly polymorphic DNA markers have provided conflicting evidence for linkage, and an X-chromosomal locus for bipolar disorder remains controversial. More recently, Pekkarinen et al. (19...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199800830-00008
更新日期:1998-10-01 00:00:00
abstract::A polymorphic 44-nucleotide insertion/deletion in the promoter region of the serotonin transporter gene (5-HTTLPR) has been shown to affect the level of expression of the serotonin transporter protein. An association between anxiety-related behavioural traits and the short form of the 5-HTTLPR has been reported. We de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199800820-00001
更新日期:1998-07-01 00:00:00
abstract::Catechol-O-methyltransferase (COMT) catalyses the methylation, and hence the inactivation, of catecholamines including the neurotransmitters dopamine and noradrenaline. There is evidence implicating COMT as a candidate gene for a number of neuropsychiatric conditions including bipolar disorder. A long recognized popul...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199808040-00004
更新日期:1998-01-01 00:00:00
abstract::Catechol-O-methyltransferase (COMT) metabolizes catecholamines such as dopamines, noradrenaline and adrenaline. It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphisms), and high red blood cell activity of COMT has previously been associated with schizop...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199723000-00001
更新日期:1997-10-01 00:00:00
abstract::Recent reports on susceptibility loci for manic depression have sparked lively debate. The pros and cons of these findings are discussed from a methodological vantage point, with implications for linkage studies generally. ...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/00041444-199700710-00009
更新日期:1997-04-01 00:00:00
abstract::In an epidemiologic sample of female-female twin pairs, we previously reported analyses of lifetime major depression. Because lifetime mania was not assessed, we could not differentiate unipolar from bipolar illness. Having completed such an evaluation in this sample, we now examine three questions: (i) does removing ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::The frequencies of HLA class I (HLA-A, B, C) and class II (HLA-DR, DQ) antigens were measured in 107 unrelated schizophrenic subjects and the results compared with 264 controls from south-east Scotland and a second control group of 133 individuals from north-east England. The expression of HLA-B35 was significantly re...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199622000-00004
更新日期:1996-07-01 00:00:00
abstract::Family, twin and adoption studies highlight the influence of genes in the aetiology of schizophrenia, though the mode of inheritance is unclear. We have been conducting a systematic search for major genes in schizophrenia using a series of multiply affected families and report preliminary results of linkage under hete...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199505030-00004
更新日期:1995-10-01 00:00:00
abstract::Attempts to detect anticipation in datasets have been hampered by two statistical problems: confusion about the role of correlation, and ascertainment bias. We show three things. (1) Correlation and anticipation are two distinct phenomena, such that neither high nor low correlation necessarily reveals anything about a...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199521000-00007
更新日期:1995-04-01 00:00:00
abstract::Chromosome 12q is a region of interest for the genetics of bipolar affective disorder because of reports of apparent cosegregation between this disorder and Darier's disease in a small number of families. Findings from a recent linkage study suggest that this chromosomal region may contain a susceptibility gene for bi...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199524000-00005
更新日期:1995-01-01 00:00:00
abstract::We report here linkage data on two families with multiple cases of schizophrenia originating from the genetically isolated population of Finland. We analyzed chromosomal DNA regions containing relevant candidate genes for schizophrenia and chromosomal regions which have been among the most widely studied in schizophre...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199400430-00004
更新日期:1994-10-01 00:00:00
abstract::The candidate genes tyrosine hydroxylase (TH) and the dopamine D4 receptor gene (DRD4) are both located in the 11p15.5 region, thus creating strong interest in this region for genetic studies of bipolar affective disorder. It is conceivable that disregulation of the dopamine system could arise from genetic defects in ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199422000-00006
更新日期:1994-07-01 00:00:00
abstract::Using 23 multiplex pedigrees we tested for linkage between schizophrenia and a microsatellite polymorphism for the D5 dopamine receptor gene (DRD5). Assuming autosomal dominant inheritance and a maximum penetrance of 0.6, an overall lod score of -4.54 was derived at 0% recombination. For recessive transmission the sum...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199422000-00002
更新日期:1994-07-01 00:00:00
abstract::A limited number of rare missense mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene have been reported. They are associated with a variety of phenotypes including cerebral haemorrhage, multi-infarct dementia and Alzheimer's disease. We recently reported an alanine to valine mutation in codon 713...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199421000-00004
更新日期:1994-04-01 00:00:00
abstract::A new structural polymorphism (Ser311/Cys311) in the dopamine D2 receptor (DRD2) gene has recently been reported to be associated with schizophrenia, particularly in patients with a positive family history of schizophrenia (Arinimi et al., 1994). However these findings remain controversial (Asherson et al., 1994; Nank...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199400440-00007
更新日期:1994-01-01 00:00:00