Liblau R, van Endert P M, Sandberg-Wollheim M, Patel S D, Lopez M T, Land S, Fugger L, McDevitt H O
Department of Microbiology and Immunology, Stanford University School of Medicine, CA 94305.
Neurology. 1993 Jun;43(6):1192-7. doi: 10.1212/wnl.43.6.1192.
The association between multiple sclerosis (MS) and alleles of the HLA class II genes indicates that at least one MS susceptibility gene is linked to the HLA class II region. However, the actual locus responsible has not been precisely identified. The recent cloning of new genes involved in antigen processing that map within the HLA class II region led us to investigate--using the restriction fragment length polymorphism (RFLP) technique and sequence-specific oligonucleotide analysis--whether these genes might play a role in conferring susceptibility to MS. We studied large multifunctional protease (LMP) 2 and 7 and transporter associated with antigen processing (TAP) 1 and 2 gene polymorphisms in 60 HLA-DR2 MS patients and 60 HLA-DR2 healthy subjects and found no specific or preferential RFLP patterns or coding sequence variants in the patient group. Our data do not support a role for these genes in MS susceptibility.
多发性硬化症（MS）与HLA II类基因的等位基因之间的关联表明，至少有一个MS易感基因与HLA II类区域相连。然而，实际的致病位点尚未精确确定。最近克隆出了位于HLA II类区域内的参与抗原加工的新基因，这促使我们使用限制性片段长度多态性（RFLP）技术和序列特异性寡核苷酸分析来研究这些基因是否可能在赋予MS易感性方面发挥作用。我们研究了60例HLA-DR2型MS患者和60例HLA-DR2型健康受试者的大多功能蛋白酶（LMP）2和7以及与抗原加工相关的转运体（TAP）1和2基因多态性，结果在患者组中未发现特异性或优先的RFLP模式或编码序列变异。我们的数据不支持这些基因在MS易感性中起作用。
