Fauchet R, Madigand M, Gueguen-Duchesne M Y, Papin J, Sabouraud O, Genetet B
Rev Neurol (Paris). 1984;140(6-7):422-5.
Some immunogenetic HLA markers are significantly correlated with multiple sclerosis, e.g.: the antigens B7, DR2, and the associations B7-DR2, A3-B7-DR2. In addition, the polymorphism of the allotypes Bf and C4 is also controlled by chromosome 6; a study of these markers is therefore of interest. The study of Bf and C4 in multiple sclerosis included a population of genotyped unrelated patients: 50 patients for Bf markers and 41 for C4A and C4B markers. This study revealed an over-representation of allotype S and homozygous BfSS in multiple sclerosis. BfSS homozygote was significantly more frequent in the B7 negative and/or DR2 negative patients, i.e. when the risk markers per se were absent. No correlation could be evidenced with the remittent or progressive character of the disease. These data, obtained from the study of C4, are still preliminary ones. The results found with the Bf markers confirm the existence of a genetic factor in multiple sclerosis and suggest that the susceptibility gene of the disease could be closer to locus Bf than to locus DR.
一些免疫遗传的HLA标记与多发性硬化症显著相关,例如:抗原B7、DR2,以及组合B7 - DR2、A3 - B7 - DR2。此外,同种异型Bf和C4的多态性也由6号染色体控制;因此,对这些标记的研究具有重要意义。在多发性硬化症中对Bf和C4的研究纳入了一群基因分型的非亲属患者:50例用于Bf标记研究,41例用于C4A和C4B标记研究。该研究揭示了同种异型S和纯合子BfSS在多发性硬化症中的过度表现。BfSS纯合子在B7阴性和/或DR2阴性患者中显著更常见,即当本身的风险标记不存在时。未发现与疾病的缓解或进展特征有相关性。这些从C4研究中获得的数据仍然是初步的。Bf标记的研究结果证实了多发性硬化症中存在遗传因素,并表明该疾病的易感基因可能更靠近Bf位点而非DR位点。