Abstract
The pattern of nucleotide sequence variation in the HLA-DQ genes has been analyzed with respect to the known serologically defined HLA types and to susceptibility to insulin-dependent diabetes (IDDM). Thus far, 8 allelic variants have been found for the DQα gene, and 12 alleles have been seen for DQβ. The DQw1 specificity correlates best with a related set of DQα variants, whereas the DQw2, DQw3, and DQ(blank) specificities correlate with alleles of DQβ. A pattern of amino acid substitutions at position 57 in the DQβ protein appears to reflect the degree of susceptibility to IDDM for the different HLA haplotypes. This portion of DQβ also shows significant homology with several human viruses, suggesting that it may be a preferred site for molecular mimicry.
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References
Giles RC, Capra JD. Structure, function, and genetics of human class II molecules. Adv Immunol 1985; 37: 1.
Bodmer WE Evolutionary significance of the HLA system. Nature 1972; 237: 139.
Svejgaard A, Platz P, Ryder LP. HLA and disease 1982—A survey. Immunol Rev 1983; 70: 193.
Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA. Analysis of enzymatically amplified beta-globin and HLADQa DNA with allele specific probes. Nature 1986; 324: 163.
Scharf SJ, Horn GT, Erlich HA. Direct cloning and sequence analysis of enzymatically amplified genomic sequences. Science 1986; 233: 1076.
Horn GT, Bugawan TL, Long CM, Erlich HA. Allelic sequence variation of HLA-DQ genes; Relationship to serology and disease susceptibility. Manuscript submitted for publication.
Monos DS, Spielman RS, Gogoljn KJ, Radka SF, Baker L, Zmijewski CM et al. HLA-DQw3.2 allele of the DR4 haplotype is associated with IDDM: Correlation between DQß restriction fragments and DQII chain variation. Immunogenetics 1987; 26: 299.
Todd JA, Bell JI, McDevitt HO. HLA-DQI gene contributes to susceptibility and resistance to IDDM. Nature 1987; 329: 599.
Erlich HA, Horn GT, Bugawan TL, Scharf S. The molecular analysis of HLA class II gene polymorphism. In: Schacter et al. (eds): Molecular and Cellular Biology of Histocompatibility Antigens. 1987, pp 93–109.
Acha-Orbea H, McDevitt HO. The first eternal domain of the nonobese diabetic mouse Class II I-A beta chain is unique. Proc Natl Acad Sci USA 1987; 84: 2435.
Adams DD. Protection from autoimmune disease as the third function of the major histocompatibility gene complex. Lancet 1987;ii:245.
Baer R, Bankier AT, Biggin MD, Deininger PL, Farrell PJ, Gibson TJ, et al. DNA sequence and expression of the B95–8 Epstein-Barr virus genome. Nature 1984; 310: 207.
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© 1989 Springer Science+Business Media New York
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Horn, G.T., Bugawan, T.L., Long, C.M., Erlich, H.A. (1989). Allelic Sequence Variation in the HLA-DQ Region: Implications for Localization of Serological Specificities and for Susceptibility to Autoimmune Disease. In: Dupont, B. (eds) Immunobiology of HLA. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-39946-0_156
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DOI: https://doi.org/10.1007/978-3-662-39946-0_156
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