广州地区汉族人群Diego血型系统多态性调查

Polymorphism of Diego blood group system in Guangzhou Han population

目的了解广州地区汉族人群中Diego血型系统DI1(Dia)和DI2(Dib)、DI3(Wra)和DI4(Wrb)两对抗原的基因频率分布,为指导临床输血提供依据。方法随机收集广州地区献血者200名,从静脉血提取基因组DNA。采用红细胞血型系统多重连接依赖的探针扩增(MLPA)技术对DI1和DI2、DI3和DI4两对抗原进行基因分型。采用测序法对MLPA基因分型结果做进一步确认。结果广州地区汉族人群中DI1、DI2、DI3和DI4抗原的基因频率分别为0.040 0、0.960 0、0.000 0和1.000 0。MLPA基因分型结果与测序法分型结果完全一致。DI1和DI2、DI3和DI4抗原在广州地区汉族人群随机输血中抗原不配合率分别为3.84%和0.00%。结论 DI1和DI2抗原在广州地区汉族人群随机输血中不配合率较高,具有一定临床意义。通过MLPA方法可以对DI1和DI2抗原进行基因分型从而推测其表型,解决了因抗体来源困难导致抗原鉴定难以开展的难题。

Objective To study the polymorphism of DI1 （ Dia ） and DI2 （ Dib ） , DI3 （ Wra） and DI4 （ Wrb ） antigens in Guangzhou Han population. Methods Two hundred Chinese Han blood donors were randomly recruited from Guangzhou Blood Center. Genomic DNA was extracted from peripheral blood cells. Genotyping of DI^＊ 01. and DI^＊ 02 alleles, DI^＊ 03 and DI^＊ 04 alleles was determined by blood gToup multiplex ligation-dependent probe amplification （MLPA） genotyping assay kit. DNA sequencing was used to verify the reliability of the MLPA method. Results The frequencies of DI^＊ 01, DI^＊ 02, DI ＊ 03 and DI^＊ 04 alleles in Guangzhou Han population were 0. 040 0, 0. 960 0, 0. 000 0 and 1. 000 0, respectively. MLPA genotyping results were consistent with DNA sequencing results. Incompatibility rates of DI1 and DI2, DI3 and DI4 antigens in random transfusion of Guangzhou Han population were 3.84% and 0.00%, respectively. Conclusion The chance for mismatch between DI1 and DI2 antigens in random transfusion is great in Guangzhou Han population, which is clinical significant. The MLPA method can be used in Diego genotyping as a substitute of serological method when commercial antisera are not available.