Reveille J D, Koopman W J, Barger B O, Acton R T, McDaniel D O
Department of Internal Medicine, School of Medicine, University of Texas Health Science Center, Houston 77225.
Am J Med. 1988 Dec 23;85(6A):48-50. doi: 10.1016/0002-9343(88)90384-1.
We utilized the technique of restriction fragment length polymorphism (RFLP) analysis in order to examine class I major histocompatibility complex genes in 52 Alabama ankylosing spondylitis patients and 107 local control subjects. A 9.2-kilobase PvuII RFLP was identified using the class I-specific B7 cDNA probe pDP001 that was closely associated with ankylosing spondylitis, most specifically with peripheral joint (including shoulder and hip) involvement. This fragment is associated with human leukocyte antigen A3 and A9 alleles, and segregation analysis in 11 multiplex families showed the RFLP to frequently segregate independently of B27 haplotypes. Two more recent studies have not confirmed the association of the 9.2-kilobase PvuII RFLP with ankylosing spondylitis per se, believed to be due to clinical and possibly genetic differences between the patient groups studied. These data strongly suggest at least one other major histocompatibility complex class I gene to be operative in predisposition to or modification of ankylosing spondylitis.
我们运用限制性片段长度多态性（RFLP）分析技术，对52名阿拉巴马州强直性脊柱炎患者和107名当地对照者的I类主要组织相容性复合体基因进行检测。使用与强直性脊柱炎密切相关、特别是与外周关节（包括肩和髋）受累相关的I类特异性B7 cDNA探针pDP001，鉴定出一个9.2千碱基的PvuII RFLP。该片段与人类白细胞抗原A3和A9等位基因相关，对11个多重家庭的分离分析显示，该RFLP常常独立于B27单倍型进行分离。最近的另外两项研究未证实9.2千碱基的PvuII RFLP与强直性脊柱炎本身存在关联，据信这是由于所研究患者群体之间的临床及可能的基因差异所致。这些数据有力地表明，至少还有一个I类主要组织相容性复合体基因在强直性脊柱炎的易感性或病情改变中发挥作用。
