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  • Sequence-specific oligonucleotide probe (SSOP)  (1)
  • psoriasis vulgaris  (1)
  • 1
    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
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  • 2
    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
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