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  • 1
    Electronic Resource
    Electronic Resource
    Insertion/deletion variant (−141C Ins/Del) in the 5′ regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder (1998)
    Springer
    Journal of neural transmission 105 (1998), S. 101-109 
    Details
    ISSN: 1435-1463
    Keywords: Keywords: Dopamine D2 receptor ; gene ; promoter ; polymorphism ; linkage ; schizophrenia ; bipolar affective disorder.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary. A possible dysregulation of dopaminergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses, in particular of paranoid-hallucinatory states, and of the manic episodes of bipolar affective disorder. In the present study we analysed allelic and genotypic variations of a recently described functional deletion/insertion variant (−141C Ins/Del) in the 59 flanking region of the human dopamine D2 receptor gene. We investigated a total of 620 unrelated individuals, comprising 260 schizophrenic patients, 70 patients with bipolar affective disorder, and 290 population controls. Analysis of the −141C Ins/Del variant revealed that the schizophrenic, bipolar affective and control groups did not differ significantly regarding genotype frequencies and allele frequencies. No evidence of an allelic association with either a family history of schizophrenic psychosis or a diagnosis of schizophrenia of the paranoid type (according to ICD 10) was found. Our findings indicate that the −141C Del variant in the 5′ flanking region of the human dopamine D2 receptor gene is unlikely to play a substantial role in genetic predisposition to major psychiatric disorders in Caucasians.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007020050041
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  • 2
    Electronic Resource
    Electronic Resource
    Mosaicism for a serotonin transporter gene promoter-associated deletion: decreased recombination in depression (1999)
    Springer
    Journal of neural transmission 106 (1999), S. 1223-1230 
    Details
    ISSN: 1435-1463
    Keywords: Keywords: Serotonin transporter, promoter, somatic deletion, mosaicism, depression, Alzheimer's disease.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary. Transcriptional activity of the human serotonin transporter gene (5HTT) is modulated by complex interaction of multiple genomic and cellular factors. Variability of a polymorphic repetitive element (5HTTLPR) is associated with anxiety, depression, and aggression-related traits and may influence the risk to develop affective spectrum disorders. 5HTTLPR variants display a unique DNA secondary structure that has the potential to regulate the transcriptional activity of the associated 5HTT promoter. The structure of the 5HTTLPR is also likely to precipitate a 381-bp somatic deletion in the 5HTT's promoter region [del(17)(q11.2)] that is observed in 20–60% of genomic DNA isolated from mononuclear blood cells and postmortem brain. The localization of the deletion breakpoints adjacent to identical putative signal sequences (CAGCC) suggests a V(D)J recombinase-like rearrangement event. In comparison with healthy controls, del(17)(q11.2)/wildtype sequence ratios showed a decrease of the deleted variant in recurrent unipolar depression. Our results also suggest that mosaicism of del(17)(q11.2) is likely to be regulated by tissue-specific as well as 5HTTLPR-dependent mechanisms. The findings confirm that the pericentric region of human chromosome 17 is highly unstable and furnishs additional evidence for intricate complexity of 5HTT regulation under physiological condition and in disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007020050236
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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