Nepom B S, Kim S J, Nepom G T
Hum Immunol. 1986 Oct;17(2):87-93. doi: 10.1016/0198-8859(86)90078-9.
We describe the production of an HLA deletion mutation by radiation mutagenesis of a DR4- and DQw3-homozygous, Dw4- and Dw14-heterozygous cell line designed to analyze polymorphisms associated with DR4 and DQw3. Southern blot analysis confirms a deletion of class I and class II genes on one haplotype. Variation in DQ beta alleles associated with DQw3 was previously described by characteristic RFLP patterns for a DQ beta bene. One pattern, which correlated precisely with A-10-83 monoclonal antibody reactivity (TA10), defined an allele which we call DQ"3.1". The mutant cell line has lost the polymorphic bands on Southern blots corresponding to the DQ"3.1" allele, while the intact Dw14 haplotype retains the alternate allele at DQ beta which is DQw-3 positive. TA10-negative. These data demonstrate the segregation of two DQw3 positive DQ beta allelic variants, both associated with DR4, which can be distinguished on the basis of both RFLP and monoclonal antibody reactivity.
我们描述了通过对一个DR4和DQw3纯合、Dw4和Dw14杂合的细胞系进行辐射诱变产生HLA缺失突变的过程，该细胞系旨在分析与DR4和DQw3相关的多态性。Southern印迹分析证实一个单倍型上的I类和II类基因发生了缺失。先前通过DQβ基因的特征性RFLP模式描述了与DQw3相关的DQβ等位基因的变异。一种模式与A-10-83单克隆抗体反应性（TA10）精确相关，定义了一个我们称为DQ“3.1”的等位基因。突变细胞系在Southern印迹上失去了与DQ“3.1”等位基因相对应的多态性条带，而完整的Dw14单倍型在DQβ处保留了另一个等位基因，该等位基因DQw-3阳性、TA10阴性。这些数据证明了两种与DR4相关的DQw3阳性DQβ等位基因变体的分离，它们可以根据RFLP和单克隆抗体反应性进行区分。
