Gladman D D, Urowitz M B, Anhorn K A, Chalmers A, Mervart H
J Rheumatol. 1986 Feb;13(1):129-36.
Forty-one members in 4 generations of a family were evaluated clinically for ankylosing spondylitis (AS). Thirty-five individuals were HLA typed. The propositus and 4 male siblings demonstrated AS. A sister had sacroiliitis. Three of the affected sibs shared the B27 containing haplotype, but the remaining 3 individuals lacked the B27 but shared the other maternal haplotype. Two other first degree relatives with B27 did not show evidence of either sacroiliitis or AS. Four members of the family had psoriasis, but did not all share a common haplotype. The lack of association of known HLA antigens with disease expression in this family suggests a role for a putative disease susceptibility gene for psoriasis in the development of B27 negative spondylitis and illustrates the difficulty with the diagnosis of B27 negative AS, since when the family was first studied, it presented as a family of "pure" AS and only after several years of followup did the first evidence of psoriasis appear.
对一个家族4代中的41名成员进行了强直性脊柱炎（AS）的临床评估。对35名个体进行了HLA分型。先证者和4名男性同胞患有AS。一名姐妹患有骶髂关节炎。3名患病同胞共享含B27的单倍型，但其余3人缺乏B27但共享另一个母系单倍型。另外两名携带B27的一级亲属未显示骶髂关节炎或AS的证据。该家族中有4名成员患有银屑病，但并非都共享一个共同的单倍型。在这个家族中，已知的HLA抗原与疾病表现缺乏关联，这表明在B27阴性脊柱炎的发生中，一个假定的银屑病疾病易感基因发挥了作用，并且说明了诊断B27阴性AS的困难，因为在首次研究这个家族时，它表现为一个“纯”AS家族，仅在数年的随访后才出现银屑病的首个证据。
