Kofler R, Perlmutter R M, Noonan D J, Dixon F J, Theofilopoulos A N
J Exp Med. 1985 Jul 1;162(1):346-51. doi: 10.1084/jem.162.1.346.
B cell hyperactivity, hypergammaglobulinemia, and autoantibody expression, the hallmarks of systemic lupus erythematosus, might be associated with structural abnormalities within the Ig heavy chain variable region (Igh-V) gene complex. The Igh-V loci from several lupus-prone mouse strains, their ancestors, and other nonautoimmune mice were therefore analyzed by restriction fragment length polymorphisms with DNA probes corresponding to seven VH gene families. These seven families comprise the majority of the known polymorphic murine VH gene repertoire, including some involved in autoantibody generation. Our study showed that the Igh-V loci from lupus and haplotype-matched nonlupus mice resulted in essentially identical restriction fragment patterns, a finding which suggests that the Igh-V gene complex does not carry a primary defect responsible for autoimmune disease.
B细胞功能亢进、高球蛋白血症和自身抗体表达是系统性红斑狼疮的特征,可能与免疫球蛋白重链可变区(Igh-V)基因复合体的结构异常有关。因此,利用与7个VH基因家族对应的DNA探针,通过限制性片段长度多态性分析了几种狼疮易感小鼠品系、它们的祖先以及其他非自身免疫小鼠的Igh-V基因座。这7个基因家族构成了已知多态性鼠VH基因库的大部分,包括一些参与自身抗体产生的基因。我们的研究表明,狼疮小鼠和单倍型匹配的非狼疮小鼠的Igh-V基因座产生的限制性片段模式基本相同,这一发现表明Igh-V基因复合体不存在导致自身免疫性疾病的原发性缺陷。