Sinha A A, Brautbar C, Szafer F, Friedmann A, Tzfoni E, Todd J A, Steinman L, McDevitt H O
Department of Medical Microbiology, Stanford University, CA 94305.
Science. 1988 Feb 26;239(4843):1026-9. doi: 10.1126/science.2894075.
The inheritance of particular alleles of major histocompatibility complex class II genes increases the risk for various human autoimmune diseases; however, only a small percentage of individuals having an allele associated with susceptibility develop disease. The identification of allelic variants more precisely correlated with disease susceptibility would greatly facilitate clinical screening and diagnosis. Oligonucleotide-primed gene amplification in vitro was used to determine the nucleotide sequence of a class II variant found almost exclusively in patients with the autoimmune skin disease pemphigus vulgaris. In addition to clinical implications, the disease-restricted distribution of this variant should provide insight into the molecular mechanisms underlying associations between diseases and HLA-class II genes.
主要组织相容性复合体II类基因的特定等位基因的遗传会增加患各种人类自身免疫性疾病的风险；然而，只有一小部分携带与易感性相关等位基因的个体发病。鉴定与疾病易感性更精确相关的等位基因变体将极大地促进临床筛查和诊断。体外寡核苷酸引物基因扩增被用于确定一种几乎仅在自身免疫性皮肤病寻常型天疱疮患者中发现的II类变体的核苷酸序列。除了临床意义外，这种变体的疾病限制性分布应该能深入了解疾病与HLA-II类基因之间关联的分子机制。
