【摘要】 目的:用DNA测序的方法确定新的HLA等位基因,调查分析该基因的遗传情况。方法:用SSO流式荧光微技术HLA分型技术进行HLA-A、B、DRB1中低分辨查测对疑为新基因的样本用DNA测序方法确定新的基因,并对该新基因携带者家系调查。结果:用流式荧光微珠法HLA分型检测出现无法解释的结果,怀疑为新的基因序列,经对怀疑为新基因第二外显子进行测序分析,确定为新的基因序列,与之相近序列等位基因DRB1*150101相比,在2外显子164 A>T,家系分析该新基因来自受检者母亲一方。结论:该新基因已由WHO HLA因子命名委员会注册,命名为DRB1*150106(DQ514601、HW10003803),该新基因的产生机制及生物等功能有待进一步研究。更多还原

【Abstract】 Objective:Identify a new HLA DRB1 allele by sequencing and investigate the heritage of this new allele.Methods: An DRB1 ambiguous result was found in the routine HLA-A、B、DRB1 typing using SSO flexible muti-analyte profiling(LAB TYPE SSO).This new was conformed by DRB1 axon 2 sequencing,family investigation was preformed.Results: An A>T was found at 164 axon 2 of DRB1 compare with DRB1*150101 which was found earlier.Family investigation discover,the new allele comes from donor’s mother.Conclusion: This new sequence was first found and has been officially assigned HLA-DRB1150106 by the WHO nomenclatures committee.更多还原