17个罕见HLA等位基因的确认及其关联单倍型预测

Confirmation of 17 rare HLA alleles and prediction of their haplotypes

目的确认常规HLA分型中检测到的17个罕见HLA等位基因，并推断其可能关联的HLA单倍型。方法采用双链直接测序和Luminex DNA杂交流式分型技术进行初次HLA分型和复核实验，采用单链测序进行罕见HLA等位基因确认实验。根据中国汉族人群HLA等位基因频率和单倍型频率资料，推断罕见HLA等位基因可能关联的HLA单倍型。结果17个罕见HLA等位基因分型结果准确，推断可能关联的单倍型有18个，其中A＊11：12和DRB1＊13：19分别于独立个体中检测到2次。结论17个罕见基因确认无误，可能关联单倍型有18种。本研究可以为临床骨髓移植、HLA配型提供参考，同时丰富了本地区HLA多态性的研究资料。

Objective To confirm 17 rare HLA alleles detected during routine HLA typing and deduce their haplotypes. Methods Bi-allelic sequence-based typing and Luminex DNA PCR-SSOP assay were applied for the initial or repeat HLA typing, respectively. The rare HLA alleles were confirmed with mono-allelie sequence-based typing. Predicted haplotypes of the rare alleles were inferred based on the frequencies of HLA alleles and haplotypes in Han population. Results The authenticity of the total 17 rare HLA alleles was proven, and 18 predicted haplotypes associated with the rare alleles were recognized. A 11：12 and DRB1 ＊ 13：19 were detected twice among unrelated individuals. Conclusion Study of rare HLA alleles and predicted haplotype can provide useful information for donor searching and transplantation, and enrich polymorphisms of HLA in this population.