Gerber N, von Felten A, Böni A, Wagenhäuser F
Z Rheumatol. 1977 Jul-Aug;36(7-8):230-8.
A family with known accumulation of ankylosing spondylitis (AS) was examined clinically, radiologically and by HLA tissue typing. Among 17 individuals of three generations there were four carriers of classical AS, all HLA-B27-positive. Five carriers of HLA-B27 were clinically and radiologically healthy, but three of them were below the age of 30, thus still being at risk of developing AS. The numerical relation between first degree relatives with and without HLA-B27 was 10:7. Genotype reconstruction of the great grandparents lead to the conclusion, that they were carriers of two different haplotype combinations, HLA-1/HLA-B27 and HLA-2/HLA-B27. Both haplotype combinations proved to be associated with AS. Among the offsprings of these great grandparents the combination of HLA-2 with HLA-B27 occurred in 3 of the 4 ankylosing spondylitics and in four of the six healthy HLA-B27-carriers. The question whether a haplotype combination of HLA-2 and HLA-B27 leads to an increased risk for AS cannot be decided without further systematic genotype determinations.
对一个已知患有强直性脊柱炎（AS）的家族进行了临床、放射学和HLA组织分型检查。在三代人的17名个体中，有4名典型AS携带者，均为HLA - B27阳性。5名HLA - B27携带者在临床和放射学上健康，但其中3人年龄在30岁以下，因此仍有患AS的风险。有HLA - B27和无HLA - B27的一级亲属的数量关系为10:7。对曾祖父母的基因型重建得出结论，他们是两种不同单倍型组合HLA - 1/HLA - B27和HLA - 2/HLA - B27的携带者。两种单倍型组合均被证明与AS相关。在这些曾祖父母的后代中，HLA - 2与HLA - B27的组合出现在4名强直性脊柱炎患者中的3名以及6名健康的HLA - B27携带者中的4名。如果没有进一步系统的基因型测定，就无法确定HLA - 2和HLA - B27的单倍型组合是否会增加患AS的风险。
