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  • 1
    Electronic Resource
    Electronic Resource
    A study of the association between schizophrenia and the dopamine D3 receptor gene (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 336-338 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A study of the genetic association between schizophrenia and aBalI polymorphism in exon 1 of the dopamine D3 (DRD3) gene, a candidate gene for schizophrenia, was conducted. The polymorphism was examined in 91 patients whose symptoms satisfied DSM-III-R for schizophrenia and 90 controls. There were no significant differences between the groups in allele frequencies or genotype counts. Contrary to a previous report, the patients were no more likely to be homozygous than controls. Moreover, no association with the presence of illness could be demonstrated when the patients were grouped according to sex, age of onset, history of admission to psychiatric institutions or positive family history.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01247330
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  • 2
    Electronic Resource
    Electronic Resource
    HLA Haplotype in Myasthenia Gravis (MG) of Japanese Children: Correlative Studies between MG Patients and Their Normal Siblings and Parents (1993)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 681 (1993), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1993.tb22947.x
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  • 3
    Electronic Resource
    Electronic Resource
    MULTIPLEX ARMS-PCR-RFLP METHOD FOR HIGH-RESOLUTION TYPING OF HLA-DRB1 (1995)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 22 (1995), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: A reliable method for high-resolution HLA-DRB1 typing using the combination of group-specific amplification and RFLP analysis is described. Group-specific PCR amplification (multiplex ARMS-PCR) was carried out under the same conditions for all groups using seven different primer pairs divided into four groups: (1) DR1 and DR10; (2) DR2, DR7 and DR9; (3) DR3, DR5, DR6 and DR8, and (4) DR4. The subsequent polyacrylamide gel electrophoresis was used to determine the group(s) contained in each sample. DR1, DR2/7, DR3/5/6/8, DR4, DRB1*0901 and DRB1 * 1001 could be distinguished easily using this system. Computer analysis of the various restriction enzyme cleavage sites was carried out on 105 DRB1 allele sequences. It was shown that all DRB1 alleles, except for five allele pairs and some alleles possessing silent mutations, could be distinguished with commonly available restriction endonucleases. Computer analyses on the discrimination of the heterozygous and homozygous combinations were also carried out. Although some heterozygous combinations could not be distinguished with single digestion, double digestion using two restriction enzymes could distinguish most of such heterozygotes. The results of the typing of 100 Japanese individuals using this method showed good agreement with those obtained by other methods.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1995.tb00252.x
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  • 4
    Electronic Resource
    Electronic Resource
    THE ANTIGENIC DETERMINANTS, Rg/Ch/WH, EXPRESSED BY JAPANESE C4 ALLOTYPES (1988)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 15 (1988), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The expression of antigenic determinants, Rg/Ch/WH, on Japanese C4 allotypes has been studied. Although the Japanese C4 allotype frequencies are known to differ from Europeans, the antigenic expression of their C4 allotypes correlates with associations described previously. All 89 random donors and 17 selected donors were Rg:1,2 so neither Rg:1,−2 nor Rg:−1,−2 was found. The frequency of Ch: 1,−2,3 was elevated while that of Ch: 1,2,3 was reduced, which was seen as a direct result of the higher frequency of B2 and B5 allotypes. None of the Japanese were Ch: 1,2,−3, but this can be accounted for by the absence of the A*6,B*1 haplotype. The WH determinant, which has been associated completely with Rg:1,−2 in Caucasians, was found at a higher frequency, 32%, in association with an A*3,2,B*QO haplotype expressing Rg:1,2, which has not been described previously. Detailed investigation showed that the A3 allotype was Rg:1,2 whereas the A2 allotype only expressed Rg1 (Rg:1,−2 WH+).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1988.tb00430.x
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  • 5
    Electronic Resource
    Electronic Resource
    ROUTINE LOW AND HIGH RESOLUTION TYPING OF THE HLA-DRB GENE USING THE PCR-MPH (MICROTITRE PLATE HYBRIDIZATION) METHOD (1996)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 23 (1996), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: We describe HLA-DRB1 typing using polymerase chain reaction-based microtitre plate hybridization (PCR-MPH), which can process large numbers of samples. MPH typing is similar to an enzyme-linked immunosorbent assay (ELISA), in which a tandemly ligated sequence-specific oligonucleotide is immobilized on microtitre wells. The typing procedure consisted of two steps. In the first, PCR-MPH with 16 probes was performed to determine the specificities of the serological levels (DR1, DR2, DR3, DR4, DR11, DR12, DR13, DR14, DR7, DR8, DR9 and DR10) after generic amplification (‘low resolution typing’). In the second step, DR1, DR2, DR4, DR 12/8 and DR3/11/13/14 were group-specifically amplified based on the results of the first PCR-MPH, and microtitre plate hybridization proceeded in a similar manner to the first step (‘high resolution typing’). Low resolution typing was completed within 2 h after generic amplification, and the results of high resolution typing were obtained in another 3.5 h after amplification. The allelic types classified using PCR-MPH were completely concordant with those obtained by PCR- single-strand conformation polymorphism or PCR-restriction fragment length polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1996.tb00137.x
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  • 6
    Electronic Resource
    Electronic Resource
    DISCRIMINATION OF HUMAN HLA-DRB1 ALLELES BY PCR-SSCP (SINGLE-STRAND CONFORMATION POLYMORPHISM) METHOD (1994)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 21 (1994), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: A single-strand conformation polymorphism (PCR-SSCP) method has been adopted for discrimination of human HLA-DRB1 alleles. This method enabled the detection of DN A polymorphisms including point mutations at a variety of positions in the DN A fragments of the HLA-DRB1 gene. A total of 27 HLA-DRB1 alleles from 172 healthy donors were analysed using a combination of PCR-SSCP with group-specific amplifications. Application of a small amount of amplified and denatured DNA to non-denaturing electrophoresis followed by silver staining resulted in distinct banding patterns. Samples possessing a single allele in each amplification group showed two-band patterns which correspond to the sense and antisense strands, while heterozygotes in the same group or a mixture of two single-type samples showed four-band patterns. All of the analysed alleles were discriminated in each DRB1 group. The method described here may be somewhat complicated for routine typing of HLA-DRB1 alleles. However, it is useful in the screening of ‘new’ alleles as well as the donor-recipient molecular matching of HLA class II genes for various purposes, e.g. selection of bone marrow transplant donors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1994.tb00170.x
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  • 7
    Electronic Resource
    Electronic Resource
    SUSCEPTIBILITY EPITOPE ON HLA-DR β CHAIN FOR RHEUMATOID ARTHRITIS AND THE EFFECT OF THE POSITIVITY ON THE CLINICAL FEATURES (1989)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 16 (1989), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: A highly significant association of an amino acid sequence, ‘70Q71R72R73A74A’ located on the DRβ-1 chain, with rheumatoid arthritis (RA) was confirmed in Japanese patients using polymerase chain reaction. The ‘70QRRA74A’ is the most plausible candidate of susceptibility epitope in Japanese RA patients. The patients carrying the sequence showed slightly higher but not significant familial incidence. The positivity of the ‘QRRAA’ showed no effect on the positivity of the rheumatoid factor, rheumatoid nodules, and extra-articular signs. Also no significant differences in other clinical parameters (ESR, CRP, Hb, A/G) and age at onset were observed regarding the positivity. The risk that the ‘QRRAA’ positive subjects would suffer from RA was estimated to be about 1.3% which meant 7.2 times easier to get RA than those without ‘QRRAA’.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1989.tb00497.x
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  • 8
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of the complement C2 in Japanese (1981)
    Springer
    Human genetics 〈Berlin〉 58 (1981), S. 213-216 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Genetic polymorphism of the second component of human complement (C2) was investigated in 521 unrelated healthy adult Japanese using isoelectric focusing in polyacrylamide gel followed by a specific hemolytic overlay method. Besides the phenotypes reported previously (C, AC and BC), a relatively infrequent double-banded phenotype (tentatively named A'C) was observed. Moreover, a homozygous variant (A) and a heterozygous “double” variant (AB) were observed. The estimated frequencies for the common allele. C2 2 (=C2 1 ), and the variant alleles, C2 A , C2 B (=C2 2 ) and C2 A′ were 0.939, 0.034, 0.022, and 0.006, respectively. The results of further typing for HLA-A,-B,-C specificities indicated the presence of significant associations of C2 A with HLA-B15 and with A26, and of C2 B with HLA-Bw61. These findings support our previous observation that in Japanese there are allelic combinations showing linkage disequilibrium between C2 and HLA loci which are different from those in Caucasians, and that the C2 structural locus is more closely linked to HLA-B than to HLA-A. C2 hemolytic activities of each phenotypes were assayed. The mean activity of type AC sera was significantly higher than that of type C or type BC, while there were no differences in the activities among the types C, BC or A'C. Also presented are two pedigrees demonstrating the segregation of C2 with HLA alleles in which a homozygous C2A or C2B individual was observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278714
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  • 9
    Electronic Resource
    Electronic Resource
    Erratum (1982)
    Springer
    Human genetics 〈Berlin〉 61 (1982), S. 83-83 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291347
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  • 10
    Electronic Resource
    Electronic Resource
    Polymorphism of properdin factor B in Japanese. Description of a rare variant and data of association with HLA and C2 (1982)
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 42-45 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Polymorphism of the properdin factor B (BF) was investigated using an agarose gel immunofixation electrophoresis in 487 unrelated healthy adult Japanese who were already typed for HLA-A,-B,-C, and C2. Besides the previously reported phenotypes in Japanese (S, FS, and F), a rare heterozygous phenotype (tentatively maned FTS) was observed once. The estimated allele frequencies for BS * S, BF * F, and BF * FT (F Tokyo) were 0.801, 0.198, and 0.001, respectively. The relative electrophoretic mobility of the variant band of type FTS was measured by Dr. G. Mauff to be F 0.75. The conversion fragment Bb of the type showed a double-banded pattern. BF hemolytic activity of the FTS individual was at the same level as other phenotypes. Statistical tests for the phenotypic data of BF with HLA-A,-B,-C, and C2 indicated the presence of the following significant associations in Japanese: Aw33-BF * F, A11-BF * S, Aw24-BF * S, B15-BF * F, B17-BF * F, Bw44-BF * F, B7-BF * S, Bw52-BF * S, Bw54-BF * S, Bw59-BF * S, Cw3-BF * F, C2 * AT-BF * F, and C2 * A′-BF*F.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281262
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