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[人类白细胞抗原系统及其对风湿性疾病遗传学的贡献]

[The HLA system and its contribution to the genetics of rheumatic diseases].

作者信息

Benevolenskaia L I, Miakotkin V A, Iakovleva D B, Folomeeva O M

出版信息

Genetika. 1986 May;22(5):861-7.

PMID:3488243
Abstract

The results of the study of histocompatibility antigens at loci A, B and Dr in patients with RA and SLE, and their first degree relatives are presented. HLA antigens B12. B18, B27, Dr2 and Dr4 were associated with RA. The antigens HLA A11, B7, B35, Dr2 and Dr3 were associated with SLE. The influence of HLA antigens on formation of clinical picture of RA and SLE was determined. Evaluation of interallelic and interloci antigens interaction in a relative risk of disease suggests that, in some cases, there is a "superdominance" effect. Some combinations of HLA antigens at loci B and Dr increase the disease risk for RA and SLE. Analysis of test-marker linkage to genes predisposed to RA and SLE provides no direct confirmation of the hypothesis of their location on the short arm of the sixth chromosome between loci B and Dr, though this possibility cannot be completely excluded.

摘要

本文展示了对类风湿性关节炎(RA)和系统性红斑狼疮(SLE)患者及其一级亲属在A、B和Dr位点组织相容性抗原的研究结果。HLA抗原B12、B18、B27、Dr2和Dr4与RA相关。HLA抗原A11、B7、B35、Dr2和Dr3与SLE相关。确定了HLA抗原对RA和SLE临床表现形成的影响。对等位基因间和位点间抗原相互作用在疾病相对风险中的评估表明,在某些情况下存在“超显性”效应。B和Dr位点上HLA抗原的某些组合会增加RA和SLE的疾病风险。对与RA和SLE易感基因相关的测试标记连锁分析,虽不能完全排除其位于第六号染色体短臂上B和Dr位点之间的可能性,但未直接证实该假说。

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