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  • 1990-1994  (3)
  • 1980-1984  (6)
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  • 1
    Electronic Resource
    Electronic Resource
    CHARACTERIZATION OF MHC ANCESTRAL HAPLOTYPES ASSOCIATED WITH INSULIN-DEPENDENT DIABETES MELLITUS: EVIDENCE FOR INVOLVEMENT OF NON-HLA GENES (1990)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 17 (1990), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Insulin-dependent diabetes mellitus (IDDM) is associated with several DR3- or DR4-containing ancestral haplotypes (AHs). Using pulsed field gel electrophoresis (PFGE), long range maps of 35 haplotypes have been derived and classified. Two diabetogenic DR3-containing AHs (8.1 and 18.2) possess deletions in the central non-HLA region; these have not been found on non-diabetogenic AHs tested to date. In addition, 8.1 and 18.2 also carry other deletions not found on other AHs. Three DR4 containing AH lack a Not 1 site, which may imply excision of an unidentified gene. These and other data suggest that deletions may be relevant to the pathogenesis of autoimmune disease, possibly through causing quantitative differences in autoimmune responses involved in IDDM. The MHC contains several regions of potential interest in relation to susceptibility to IDDM; these may explain the association with only certain DR3- and DR4-carrying AH and DR3,4 heterozygosity in terms of cis and trans interactions. On the other hand, the class I1 region may be particularly important in protection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1990.tb00889.x
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  • 2
    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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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    POLYMORPHISM OF THE COMPLEMENT COMPONENT C6 IN JAPANESE (1983)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 10 (1983), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Genetic polymorphism of human C6 was investigated in Japanese using isoelectric focusing and a specific haemolytic overlay method. Three common and six rare allotypes were identified. Five of these nine allotypes were reference-typed by the International Reference Laboratory. Five of the six rare allotypes were considered to be new. The allele frequencies were estimated in the population study as follows: C6 A 0.427, C6 B 0.483 C6 B2 0.076, and the rere alleles (A3, A21, M1, M2, B3, and B4) 0.041.Inheritance of the three common and the two rare (A3 and M1) allotypes was demonstrated in the family study. The patterns obtained by the pretreatment with neuraminidase are presented.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1983.tb01029.x
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  • 4
    Electronic Resource
    Electronic Resource
    Structural studies of stacking variants in Mg-base Friauf–Laves phases (1980)
    Copenhagen : International Union of Crystallography (IUCr)
    Acta crystallographica 36 (1980), S. 1548-1554 
    Details
    ISSN: 1600-5740
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1107/S0567740880006565
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Study of HLA class I, class II and complement genes (C2, C4A, C4B and BF) in Japanese psoriatics and analysis of a newly-found high-risk haplotype by pulsed field gel electrophoresis (1991)
    Springer
    Archives of dermatological research 283 (1991), S. 281-284 
    Details
    ISSN: 1432-069X
    Keywords: Psoriasis ; HLA ; Complement genes ; Supratype ; Pulsed field gel electrophoresis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Genetic polymorphisms of HLA antigens and HLA-linked serum complement components (C2, C4A, C4B and BF) were investigated in 79 Japanese patients suffering from psoriasis. HLA typing revealed increased frequencies of HLA-A1, A2, B39, Bw46, Cw6, Cw7 and Cw11. Among complement components, positive associations were obtained with C4A4 and C4B2 and a negative association with BFF. The major histocompatibility complex haplotype (supratype), HLA-A2-Cw11-Bw46-C2C-BFS-C4A4-C4B2-DRw8 is purported to be a new high-risk haplotype in Japanese patients with psoriasis. Analysis of patients with this supratype via pulsed field gel electrophoresis showed the existence of specific, extensive DNA deletions near HLA-DR genes, but no disease-specific patterns could be observed by means of this technique. The newly-found high-risk haplotype indicates racial and ethnic differences among psoriatic patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00376613
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  • 6
    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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  • 7
    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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  • 8
    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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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    The genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: II. Studies of genetic markers in blood (1984)
    Springer
    Journal of human genetics 29 (1984), S. 51-57 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Blood samples from 21 patients with familial amyloid polyneuropathy (FAP) and 81 normal family members among 7 affected families in Arao were tested for 9 blood group systems, 8 serum polymorphic proteins, 12 red cell polymorphic enzymes, and HLA. One of the most important findings was the existence of two relatively rare variants,i.e., group specific component Gc*1A2 and phosphoglucomutase PGM1*7 in 3 families. This observation suggests that the three genealogically independent families may have a common ancester. Phenotype AB in the ABO blood group system, phenotype 1 in the haptoglobin system, and M2 gene in the protease inhibitor system were not seen, and phenotype Jk(a+b−) in the Kidd groups was found in only one patient. Whether these observations reflect the characteristics of FAP in the Arao district or that of FAP itself can not be determined from the present study. No phenotype attributable to Caucasians was found, hence the study provides no support for the hypothesis that the gene for FAP was introduced into Japan by the Portuguese.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01876758
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