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  • Sequence-specific oligonucleotide probe (SSOP)  (1)
  • immune response gene  (1)
  • psoriasis vulgaris  (1)
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  • 1
    Electronic Resource
    Electronic Resource
    HLA-Linked susceptibility and resistance to Takayasu Arteritis (1992)
    Springer
    Heart and vessels 7 (1992), S. 73-80 
    Details
    ISSN: 1615-2573
    Keywords: Takayasu arteritis ; HLA Typing ; Disease susceptibility gene ; Sequence-specific oligonucleotide probe (SSOP) ; Polymerase chain reaction (PCR)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary To investigate genetic factors involved in the pathogenesis of Takayasu arteritis, patients in the Japanese population were examined forHLA-A, -B, and-C alleles by serological typing and forHLA-DR, DQ, andDP alleles by DNA typing using polymerase chain reaction (PCR)/sequence-specific oligonucleotide probe (SSOP) analysis. The frequencies ofHLA-Bw52, DRB1 *1502,DRB5 *0102,DQA1 *0103,DQB1 *0601, andDPB1 *0901 alleles were significantly increased and the frequencies ofHLA-Bw54, DRB1 *0405,DRB4 *0101,DQA1 *0301, andDQB1 *0401 alleles were significantly decreased. Strong linkage disequilibria among the increased alleles and among the decreased alleles were evident in the Japanese population. Therefore, the haplotype ofHLA-Bw52-DRB1 *1502-DRB5*0102-DQA1*0103-DQB1*0601-DPA1*02-DPB1*0901 may confer susceptibility to Takayasu arteritis while another haplotype ofHLA-Bw54-DRB1 *0405-DRB4*0101-DQA1*0301-DQB1*0401 may confer resistance to the disease. These observations clearly indicate thatHLA-linked gene(s) are involved in the development of Takayasu arteritis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01744548
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Susceptibility to psoriasis vulgaris is controlled in part by two unlinked genes in a double recessive manner (1988)
    Springer
    Journal of human genetics 33 (1988), S. 445-450 
    Details
    ISSN: 1435-232X
    Keywords: psoriasis vulgaris ; double recessive model ; genetic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The mode of inheritance of the susceptibility to psoriasis vulgaris (PV) was investigated by segregation analysis. Because our main aim was to search a possibility of the double recessive hypothesis for the disease susceptibility, we examined 83 families of normal × normal mating by single selection out of 93 probands, a number sufficient to be analyzed genetically. Nine of the 83 couples had two or more affected children, including probands. As to the 83 families, the hypothesis of the single recessive model for PV was ruled out, but the double recessive model allowing for 62 to 80% of sporadic cases was fitted to the family data. Penetrance value of the disease trait ranged from 33 to 43%. It is thus likely that about 20 to 38% of patients with psoriasis are homozygous for two unlinked autosomal recessive genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01897785
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    HLA-linkedImmune suppression genes (1990)
    Springer
    Journal of human genetics 35 (1990), S. 1-13 
    Details
    ISSN: 1435-232X
    Keywords: immunogenetics ; HLA ; immune response gene ; immune suppression gene ; suppressor T cell
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Genetic control of immune response was investigated by family and population analyses in humans. It was first recognized that there are high responders and low or non responders to natural antigens in human population. Family analysis revealed that low responsiveness to streptococcal cell wall antigen (SCW) was inherited as anHLA-linked dominant trait. CD8+ suppressor T cells existed in low responders and depletion of the CD8+ T cells from low responders could restore the strong immune response to SCW. Therefore the gene controlling the low response to SCW was designated as animmune suppression gene for SCW.Immune suppression gene for SCW was in strong linkage disequilibrium with particular alleles ofHLA-DQ locus. The association betweenHLA-DQ alleles and low responsiveness mediated by CD8+ suppressor T cell was also observed for schistosomal antigen,Mycobacterium leprae antigen, tetanus toxoid, cryptomeria pollen antigen and hepatitis B virus surface antigen suggesting that low responsiveness to those antigens was also controlled byimmune suppression genes. Anti-HLA-Dr monoclonal antibodies inhibited the immune response to those antigens of high respondersin vitro, but anti-HLA-DQ monoclonal antibodies did not. On the other hand, anti-HLA-DQ monoclonal antibodies restored the immune response in low responders. Therefore, it is suggested thatHLA-DR upregulates immune response and thatHLA-DQ downregulates it and thatHLA-DQ is epistatic toHLA-DR in the regulation of immune response in humans. Furthermore, direct evidence for the differential in immune regulation betweenHLA-DR andDQ was obtained by analyzing the SCW specific T cell lines from low responders. SCW specific and HLA-DQ restricted CD4+ T cell lines could activate CD8+ suppressor T cells which in turn downregulate SCW specific CD4+ T cells whereas SCW specific and HLA-DR restricted CD4+ T cell lines could not activate CD8+ suppressor T cells. All these observation clearly demonstrated that theHLA-linkedimmune suppression genes exist in humans to control low response to natural antigens.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01883163
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    Paper (German National Licenses)
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