Warren R P, Singh V K, Cole P, Odell J D, Pingree C B, Warren W L, White E
Department of Biology, Utah State University, Logan 84322-6800.
Clin Exp Immunol. 1991 Mar;83(3):438-40. doi: 10.1111/j.1365-2249.1991.tb05657.x.
Associations between C4 deficiency and autoimmune disorders have been found over the past several years. Since autism has several autoimmune features, the frequencies of null (no protein produced) alleles at the C4A and C4B loci were studied in 19 subjects with autism and their family members. The autistic subjects and their mothers had significantly increased phenotypic frequencies of the C4B null allele (58% in both the autistic subjects and mothers, compared with 27% in control subjects). The siblings of the autistic subjects also had an increased frequency of the C4B null allele, but this increase was not significant. The fathers had normal frequencies of this null allele. All family members had normal frequencies of the C4A null allele, all normal C4A and C4B alleles and all BF and C2 alleles.
在过去几年中，人们发现C4缺乏与自身免疫性疾病之间存在关联。由于自闭症具有多种自身免疫特征，因此对19名自闭症患者及其家庭成员的C4A和C4B位点无效（不产生蛋白质）等位基因的频率进行了研究。自闭症患者及其母亲的C4B无效等位基因的表型频率显著增加（自闭症患者和母亲均为58%，而对照组为27%）。自闭症患者的兄弟姐妹中C4B无效等位基因的频率也有所增加，但这种增加并不显著。父亲的这种无效等位基因频率正常。所有家庭成员的C4A无效等位基因频率、所有正常的C4A和C4B等位基因以及所有BF和C2等位基因频率均正常。
