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  • 1
    Electronic Resource
    Electronic Resource
    MOLECULAR ASPECTS OF HLA CLASS II AND SOME AUTOIMMUNE DISEASES (1993)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 20 (1993), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1993.tb00106.x
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  • 2
    Electronic Resource
    Electronic Resource
    EDITORIAL (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
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1989.tb00442.x
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  • 3
    Electronic Resource
    Electronic Resource
    ANTI-TISSUE ANTIBODIES AND IMMUNOGLOBULIN LEVELS IN RELATION TO HLA AND OTHER MARKERS IN ICELANDIC FAMILIES (1979)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 6 (1979), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Studies of 521 sera from the Icelandic cousin marriage project were made to assess the incidence of various anti-tissue antibodies and the levels of immunoglobulins, as these were considered to be useful markers of the humoral immune response. Comparisons were made between these parameters and the HLA-A and B antigens, the blood groups, the immunoglobulin allotypes (Gm, Km and Am), the properdin factor (Bf), and other markers.These investigations offered another approach to the study of the sites of action of immune response genes in man. Because the immune response may be expected to differ for each individual and depend at least in part, on the degree of exposure to different antigens, no absolute correlation was expected. There was, however, a marked association between certain IgG anti-tissue antibodies and HLA antigens. This was most marked for HLA-A10, B18 and B27, but not for HLA-A1 or B8.The comparison of immunoglobulin levels with HLA antigens, was less striking, although HLA-A2 appeared to be associated with low levels of IgE. There were also some associations between immunoglobulin levels and ABO blood groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1979.tb00680.x
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  • 4
    Electronic Resource
    Electronic Resource
    DNA METHODS FOR HLA TYPING: INTRODUCTION (1991)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 18 (1991), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1991.tb00002.x
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  • 5
    Electronic Resource
    Electronic Resource
    EDITORIAL (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
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1989.tb00450.x
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  • 6
    Electronic Resource
    Electronic Resource
    DIALLELIC POLYMORPHISM MAY EXPLAIN VARIATIONS OF THE BLOOD CONCENTRATION OF MANNAN-BINDING PROTEIN IN ESKIMOS, BUT NOT IN BLACK AFRICANS (1992)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 19 (1992), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Mannan-binding protein (MBP) is a lectin which, upon binding to certain carbohydrates, activates the classical pathway of complement without the involvement of antibody or C1q. Deficiency of the MBP is associated with an opsonic defect and recurrent infections during early life. An amino acid substitution in the exon 1 at codon 54 in the MBP gene (GGC [glycine] to GAC [aspartic acid]) has been shown to be closely associated with low MBP concentration in Caucasoids. The gene frequency of the mutant allele in this population has been estimated at 0.13. In the study described here, we investigated the association between the mutant allele and MBP protein concentration in Eskimos from East-Greenland and black Africans from the Baringo District in Kenya. The frequency of the GAC allele was identical in Eskimos and Caucasoids (0.13). No overlap with regard to MBP concentration between the genotypes was found in the Eskimos. In contrast, the Africans revealed a low frequency of the GAC allele (0.009). However, the median MBP protein concentration was approximately 5 times lower among the Africans than the Eskimos. In 12.6% of the Africans and in 2.5% of the Eskimos, MBP was undetectable. Thus, MBP deficiency is the most frequent immunodeficiency so far described. The high prevalence of MBP deficiency among healthy individuals indicates that MBP deficiency also confers some selective advantages. We advance the hypothesis that MBP deficiency is maintained in populations because MBP deficiency decreases the infectivity of some intracellular micro-organisms which are dependent on opsonization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1992.tb00083.x
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  • 7
    Electronic Resource
    Electronic Resource
    Linkage between late onset, dominant spinocerebellar ataxia and HLA (1984)
    Springer
    Human genetics 〈Berlin〉 66 (1984), S. 85-89 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three families with at least three generations of family members affected with spino-cerebellar ataxia transmitted in a dominant fashion were studied. In each family every available member, above the lowest age at onset observed in that family, was subject to a thorough clinical investigation and blood was sampled for HLA,A,B and C-typing. In all three families the affected members had signs which were characteristic for cerebellar ataxia, without spasticity or dementia. In two families the mean age at onset was in accordance with the literature, viz. in the fourth and fifth decade, while in the third family mean age at onset was over 50 years. In the two pedigrees with the usual age at onset there was evidence of linkage between the disease and the HLA-system with a combined lod score of 1.499 at a recombination fraction of 0.05 for males. The third pedigree gave negative lod scores for linkage between HLA and the disease locus for both males and females but in this family also the high age at onset was indicative of genetic heterogeneity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00275192
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  • 8
    Electronic Resource
    Electronic Resource
    HL-A Antigens and Heteromorphic Fluorescence Characters of Chromosomes in Prenatal Paternity Investigation (1972)
    [s.l.] : Nature Publishing Group
    Nature 236 (1972), S. 312-313 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A 27-year-old pregnant white woman married to a negro had had sexual intercourse with her husband as well as with a white man near the time of conception. This was her second pregnancy; the first one was terminated by legal abortion. The couple had decided to apply for another legal abortion and a ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/236312a0
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  • 9
    Electronic Resource
    Electronic Resource
    A linkage study of hereditary ataxias and related disorders (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 371-383 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genetic markers controlled by 21 genetic systems were studied in 13 families containing members suffering from various hereditary disorders involving ataxia. Classical cerebellar ataxia was present in four, Friedreich ataxia in two, hereditary spastic paraplegia in four, and the Charcot-Marie-Tooth syndrome in three families. In each family, every available member above the lowest age at onset observed in that family, was subjected to a thorough clinical investigation and blood was sampled for investigation of genetic markers. The families with cerebellar ataxia and with Charcot-Marie-Tooth syndrome contained enough informative relatives to allow a formal linkage study using the lodscore method. Three of the pedigress with cerebellar ataxia gave evidence of linkage between the disease and the HLA system with a combined lodscore of 2.128 at a recombination fraction θ of 0.05 for both sexes combined. The recombination fraction was considerably higher in females than in males, although the difference between the two sexes was not statistically significant. Negative lodscores were obtained for the remaining family with cerebellar ataxia, which might be due to the fact that this family only provided information on recombination in females. However, the clinical features in this family differed from those in the other three families by a significantly higher frequency of dementia and pyramidal tract lesions. Based on these observations and on contradictory results in the literature concerning linkage between cerebellar ataxia and HLA, we suggest that there are two forms of cerebellar ataxia: One (CA1) linked to HLA with symptoms restricted to lesions in the cerebellum and spinocerebellar system and another (CA2) not linked to HLA with symptoms from more wide-spread lesions of the CNS. None of the other genetic markers (except perhaps GLO) showed linkage to the cerebellar ataxias. Negative lodscores throughout with all 21 genetic markers were found in the families with Charcot-Marie-Tooth syndrome. There was no evidence for linkage between HLA on the one hand and Friedreich ataxia or hereditary spastic paraplegia on the other.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291585
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  • 10
    Electronic Resource
    Electronic Resource
    Choroideremia: further evidence for assignment of the locus to Xq13–Xq21 (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 449-452 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13–Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13–Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280505
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