Allen M, Liu L, Gyllensten U
Department of Medical Genetics, Beijer Laboratory, Uppsala University, Sweden.
Hum Immunol. 1994 May;40(1):25-32. doi: 10.1016/0198-8859(94)90018-3.
A comprehensive system for genetic typing of the HLA class I A locus is described, based on PCR amplification and typing with nonradioactively labeled SSO probes. Exons 1-3 of the A locus are amplified and typing is performed with a set of 30 nonradioactively labeled oligonucleotide probes. This system resolves 34 of 39 known alleles and 561 (94%) of 595 possible genotypes. Among a sample of 354 individuals from Sweden and China, 97.5% of the genotypes were resolved. Probes were directed preferentially at replacement substitutions in foreign antigen-binding sites, in order to detect not only the known alleles but also new combinations of polymorphic motifs, indicative of previously unrecognized alleles. Three individuals were found with a new combination of polymorphic motifs, suggesting the presence of at least one previously undescribed allele in the populations sampled. This typing system is useful for disease association studies, tissue typing, and in forensic medicine.
本文描述了一种基于聚合酶链反应（PCR）扩增和使用非放射性标记的序列特异性寡核苷酸（SSO）探针进行分型的HLA - I类A基因座基因分型综合系统。A基因座的外显子1 - 3被扩增，并使用一组30个非放射性标记的寡核苷酸探针进行分型。该系统可分辨出39个已知等位基因中的34个以及595种可能基因型中的561种（94%）。在来自瑞典和中国的354名个体样本中，97.5%的基因型得到了分辨。探针优先针对外来抗原结合位点中的置换替换，以便不仅检测已知等位基因，还能检测多态性基序的新组合，这些新组合表明存在以前未识别的等位基因。发现有三名个体具有多态性基序的新组合，这表明在所采样的人群中至少存在一个以前未描述的等位基因。这种分型系统可用于疾病关联研究、组织分型和法医学。
