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同一HLA单倍型患者中出现的银屑病、骶髂关节炎和外周关节炎。一份初步家族报告及对主要组织相容性复合体(MHS)产物间相互作用的一种假说解释

Psoriasis, sacro-iliitis and peripheral arthritis occurring in patients with the same HLA haplotype. A preliminary family report and a hypothetical explanation of the interaction between MHS products.

作者信息

Marcusson J, Elman A, Möller E, Thyresson N

出版信息

Tissue Antigens. 1976 Aug;8(2):131-8.

PMID:968898
Abstract

The present family investigation has shown that genes within the MHS are mainly responsible for the development of psoriasis or psoriasis-associated arthritic lesions (peripheral arthritis and sacroiliitis). We have hypothetically discussed the possibility that multiple genes, all located within the MHS, act in concert to increase the risk of developing disease to very high levels. This implies that at least two MHS linked genes act in complementary fashion for the development of disease, these genes seem to be able to operate both in the cis and in the trans position. One of these genes would be situated in the chromosomal portion of the MHS which carries the HLA-D locus. Families with a high incidence of disease would show inheritance according to the cis position of genes, when it can be shown that most of the carriers of the specific disease-associated haplotype are affected by disease, whereas in other families, complementarity between two distinct HLA haplotypes with genes acting in the trans position would result in disease.

摘要

目前的家族调查表明,主要组织相容性复合体(MHS)中的基因是银屑病或银屑病相关关节病变(外周关节炎和骶髂关节炎)发病的主要原因。我们曾假设性地讨论过一种可能性,即所有位于MHS内的多个基因协同作用,将发病风险提高到非常高的水平。这意味着至少有两个与MHS连锁的基因以互补方式参与疾病的发生,这些基因似乎在顺式和反式位置都能发挥作用。其中一个基因位于携带HLA - D位点的MHS染色体区域。当能够证明大多数特定疾病相关单倍型的携带者都患有该疾病时,疾病高发家族的遗传将表现为基因的顺式位置遗传;而在其他家族中,两个不同的HLA单倍型之间的互补性以及基因在反式位置发挥作用将导致疾病发生。

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