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  • 1
    Electronic Resource
    Electronic Resource
    On the significance of C2, C4, and factor B polymorphisms in disease (1981)
    Springer
    Human genetics 〈Berlin〉 56 (1981), S. 235-247 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In this review article, recent evidence is presented that some diseases like insulin-dependent diabetes mellitus, multiple sclerosis, and idiopathic membranous nephropathy, which are primarily associated with HLA-D,DR, are also related to the rare C2, C4, and Factor B alleles. Circumstantial evidence is available that at least some of these rare variants may be functionally deficient. Based on the concept of functionally interacting gene clusters, mutant complement genes may lead to impaired effector mechanisms in virus neutralization or lysis of virus-infected cells. Other mechanisms such as alteration of vascular permeability may be involved in the development of proliferative retinopathy and familial hypertension. In lepromatous lepra, an impaired cell-mediated lysis of M. leprae may be related to the hemolytically inactive C4F1 allelic product.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274674
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  • 2
    Electronic Resource
    Electronic Resource
    Heterogeneity in the genetic basis of human complement C9 deficiency (1998)
    Springer
    Immunogenetics 48 (1998), S. 144-147 
    Details
    ISSN: 1432-1211
    Keywords: Key words Point mutations ; Hemolytic activity ; Ethnic origin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050415
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  • 3
    Electronic Resource
    Electronic Resource
    Further family studies on the genetic control of β2-glycoprotein I concentration in human serum (1969)
    Springer
    Human genetics 〈Berlin〉 7 (1969), S. 93-97 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 88 families with a total of 213 children were examined for β2-glycoprotein I serum concentrations. In 74 families parents and children had normal concentrations. In 9 families one of the parents and approximately half of the children had intermediate concentrations. These individuals are presumably heterozygous for a deficiency gene BgD. In these families β2-glycoprotein I concentration appears to be controlled by a pair of alleles which are transmitted as autosomal co-dominants. The results in 5 families did not conform to this genetic hypothesis, since children with an intermediate concentration of β2-glycoprotein I were found whose both parents had a normal concentration of this protein. Non-genetic factors may be responsible for phenotypic variations in the different genetic types.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00287072
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosomal aberrations in patients with primary biliary cirrhosis (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 546-550 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosomal aberrations in untreated lymphocyte cultures, bleomycin (BLM)-induced aberrations and sister chromatid exchanges (SCE) in the peripheral blood lymphocytes of 11 patients suffering from primary biliary cirrhosis (PBC) and 14 matched control individuals were analysed. The lymphocytes of the PBC patients had on average a lower mitotic index (2.3) compared with controls (3.5) in the untreated cultures. The mean baseline rate of aberrations of the cultured lymphocytes of the patients was 5.3 aberrations per 100 metaphases (%); this was significantly different (P=0.0291) from that of the controls with a mean of 2.3%. In lymphocytes of the patients and controls, most of the aberrations observed took the form of gaps; there was an almost equal breakage rate in both groups (0.5% and 0.4%, respectively). The average number of mitoses with aberrations in the PBC patients studied was double that of the controls (4.9% and 2.3% respectively, P=0.0323). The mean number of the BLM-induced aberrations was 54.0% and 27.7% for the lymphocytes of the patients and controls, respectively. The mean number of the aberrant mitoses in the BLM cultures was 6 times higher than that of the untreated cultures for both groups, 25.7% and 14.6% respectively (P=0.018). The chromosomal distribution of baseline and induced aberrations was not random. The PBC patients had a mean number of 8.7 SCE per mitosis, which was significantly higher than the SCEs in the controls (6.3 SCE per mitosis; P=0.0156). The evidence suggests that the chromosomes of the lymphocytes of PBC patients may be less stable than those of the control individuals in this study.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194235
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  • 5
    Electronic Resource
    Electronic Resource
    Bgl II restriction fragment length polymorphism of human complement C4A gene coincides with BF * F allele of factor B (1988)
    Springer
    Immunogenetics 27 (1988), S. 225-228 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00346591
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  • 6
    Electronic Resource
    Electronic Resource
    Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes (1988)
    Springer
    Human genetics 〈Berlin〉 81 (1988), S. 64-70 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An increased chromosomal breakage rate (ICBR) was found in 27 of 28 patients with scleroderma (systemic sclerosis, SS)-5 with the syndrome including calcinosis cutis, Raynaud phenomenon, esophagus hypomotility, sclerodactyly and telangiectasia (CREST), 4 incomplete CREST, 1 overlapping syndrome, 18 progressive systemic sclerosis (PSS). Not only the patients, but also about half of their first-degree relatives showed an increased chromosomal breakage rate (more than 5 breaks per 100 metaphases). This character segregated as a dominant marker in nine families of scleroderma patients. In the six informative of the nine families, the ICBR trait showed close linkage with the HLA region on chromosome 6 (total lod score 5.5 at θ=0). In these families, ICBR was predominantly observed in linkage with HLA haplotype A1, Cw7, B8, C4AQ0B1, DR3 which is frequently observed in autoimmune diseases. The nature of the agent inducing chromosomal breakage in cultured lymphocytes of some, but not all family members of scleroderma patients remains to be clarified.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283732
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  • 7
    Electronic Resource
    Electronic Resource
    Genetics of human C4 polymorphism: Detection and segregation of rare and duplicated haplotypes (1984)
    Springer
    Immunogenetics 19 (1984), S. 321-333 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Applying a combined technology for the detection of allotypec variation of the fourth component of human complement (C4), including immunofixation with anti-C4 and C4-dependent lysis after agarose electrophoresis, sodium dodecyl sulfate-polyacrylamide gel electrophoresis of C4 to separate the C4A and B α-chains, and the determination of Rodgers (Rg) and Chido (Ch) determinants of C4 in serum and at the blotted C4 α-chains, we detected rare human C4 allotypes and studied the genetic linkage. Partial inhibitors (p. i.) of anti-Rg and anti-Ch sera were found; the C4A51 allotype characterized as Rg p. i. and the C4A1 and C4B51 allotypes as Ch p. i. were genetically inherited. The C4A1 allotype has a unique Rg- Ch+ C4A α-chain. Duplicated C4A loci, A *3, A *2, and A *5, A *2 were both associated with a C4BQO and the HLA haplotype A3-Cw4-Bw35-DR1. These additions to the already known extensive C4 polymorphism may help to sort out their significance for the biological functions of human C4.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00345405
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  • 8
    Electronic Resource
    Electronic Resource
    Antigenic determinants expressed by human C4 allotypes; a study of 325 families provides evidence for the structural antigenic model (1988)
    Springer
    Immunogenetics 27 (1988), S. 442-448 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The antigenic determinants of human C4 have been defined by human IgG antisera, Rodgers (Rg) and Chido (Ch), in hemagglutination-inhibition assays (HAI). Eight (2 Rg and 6 Ch) are of high frequency, 〉 90% , and 1, WH, is of low frequency, 15 %. The phenotypic combinations are complex; generally, C4A expresses Rg, and C4B has Ch, but reverse antigenicities have been established both by HAI and by sequence data of selected C4 allotypes. A study of 325 families provides data on the antigenic expression of each C4 allotype and demonstrates strong associations. A structural model for the antigenic determinants of C4 proteins has been proposed and is completely supported by the family material. Of the 16 possible antigenic combinations for C4 proteins, only 3 are undetected. A new Ch combination has been recorded in two French families. The reported sequence variation within the C4d region can account for the antigenic determinants but leaves the location of electrophoretic variation in C4 still unclear.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00364431
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  • 9
    Electronic Resource
    Electronic Resource
    Human complement C81 (C8 A) polymorphism: detection and segregation of new variants (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 413-416 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In addition to the earlier detected C81(A) rare variants A1, A2 (now A3) and B1 (now B2), six new rare variants (C81 A2 new, A4, A5, A6, M1 and B1new) are described within the polymorphism of the eighth component of human complement (α-γ chain subunit). Except for A3, all rare C81 A variants are only detected by isoelectric focusing, and not by SDS polyacrylamide gel electrophoresis (PAGE), in the α-γ subunit. In one individual out of approximately 700 individuals studied, a reversed position of the common allele (B vs A) was observed by SDS PAGE and the isofocusing technique. The segregation of A1, A3 and A4 could be followed in putative father/child combinations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01247347
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  • 10
    Electronic Resource
    Electronic Resource
    DNA polymorphism of the human complementC8β gene: formal genetics and intragenic localization (1989)
    Springer
    Immunogenetics 30 (1989), S. 291-295 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The eighth component of human complement consists of three subunits of different molecular mass, which are coded for by three separate genetic loci. Polymorphisms have been described at the protein level for the alpha and beta subunits by means of sodium dodecyl sulfate gel electrophoresis and isoelectric focusing. Using a full-length humanC8β cDNA probe, we have studied more than 100 individuals by Southern blot analysis to detect DNA polymorphisms. We have found two restriction fragment length polymorphisms (RFLPs) with the enzymesTaqI andBam HI. TheTaq I polymorphism is defined by two alleles, i.e., a single 4.9 kb fragment or two 2.8/2.1 kb fragments. The allele frequencies are 0.68 and 0.32, respectively. The second RFLP withBam HI is correlated with theTaq I variants: 3 kbBam HI; 4.9 kbTaq I and 3.3 kbBam HI; 2.8/2.1 kbTaqI. Both RFLPs could be mapped to the 3′ portion of theC8β gene. Based on the size of genomic restriction fragments, theC8β gene can be estimated to have a size of 32–36 kb. Because of the even frequency distribution, theC8β DNA polymorphisms may be useful in gene mapping and disease association studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02421333
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