Marcusson J, Möller E, Rosenthal L, Lindwall N, Thyresson N
Acta Derm Venereol. 1978;58(6):511-20.
This family consists of forty-eight subjects, all of whom have been examined with regard to the presence of psoriasis and nearly all for the presence of arthritic lesions (sacroiliitis and peripheral arthritis). All the members have been tissue-typed not only for HLA-A, B and C locus products but also for D locus products. This has enabled us to study the entire HLA chromosomal region. In the family concerned we have found that those subjects haploidentical with the proband have, to a very large degree, either one or all clinical manifestations, which demonstrates a close genetic relationship between joint (especially sacroiliitis) and cutaneous manifestations. These findings prompt us to repeat our previously made proposal about different phenotypic expressions of the same genotype. In this family study the disease-associated haplotypes did not contain the genes for B13, 17 or 37 antigens which are known to occur frequently in psoriatic patients. However, not all psoriasis patients have these antigens. Despite that, we believe that the gene(s) which increase the likelihood of developing psoriasis are identical in all patients and therefore family studies where the proband does not carry the particular psoriasis associated B-alleles are equally illuminating as to the inheritance pattern of disease.
这个家族由48名受试者组成,所有受试者都接受了银屑病检查,几乎所有人都接受了关节炎性病变(骶髂关节炎和外周关节炎)检查。所有成员不仅进行了HLA - A、B和C位点产物的组织分型,还进行了D位点产物的组织分型。这使我们能够研究整个HLA染色体区域。在这个相关家族中,我们发现与先证者单倍型相同的那些受试者在很大程度上具有一种或所有临床表现,这表明关节(尤其是骶髂关节炎)和皮肤表现之间存在密切的遗传关系。这些发现促使我们重申我们之前提出的关于同一基因型不同表型表达的提议。在这项家族研究中,与疾病相关的单倍型不包含已知在银屑病患者中频繁出现的B13、17或37抗原的基因。然而,并非所有银屑病患者都有这些抗原。尽管如此,我们认为增加患银屑病可能性的基因在所有患者中是相同的,因此在先证者不携带特定银屑病相关B等位基因的家族研究对于疾病的遗传模式同样具有启发性。