沈阳地区人群RHD基因多态性分析与精准输血

Analysis of the polymorphism of RHD gene in Shenyang individuals and accurate blood transfusion

目的:研究沈阳地区人群RHD基因多态性分布特征,探讨RhD阴性及D变异体献血员和患者的血液管理,保障输血安全。方法:采用血清学与分子生物学相结合的方法对医院2018年11月1日—2020年12月1日献血员和患者的RhD血型进行鉴定。结果:45 180例标本中,血清学筛选出RhD阴性137例和弱D表型(IgM抗D<3+)5例;分子生物学方法检测出10种RHD基因变异类型:RHD(1227G>A)(29/142)和weak D type15(3/142)最为多见;4种RHD-CE融合基因,RHD-CE(2-9)-RHD(8/142)占比最大,RHD-RHCE(4-7)-RHD(2/142)、DV type 2[Hybrid RHCE(5)](1/142)和DVI type3[Hybrid RHCE(3-6)](1/142)次之。4种罕见单核苷酸突变:partial DV type 1(c.667T>G and c.697G>C)((1/142))、weak D type 33(c.520 G>A)((2/142))、weak D type 40(c.602C>G)(1/142)和weak D type 100(c.787G>A)(1/142)。结论:沈阳地区人群RHD基因具有其独特的多态性,对该地区临床建立RHD阴性和变异体输血策略,实现精准输血具有重要意义。

Objective: To explore the blood management of RhD negative and RhD variants in blood donors and patients by investigating the distribution character of the RHD gene polymorphism in Shenyang individuals,so as to ensure blood transfusion safety.Methods: The RhD blood types of blood donors and patients in our center from January 1,2018 to December 1,2020 were identified by serological combined with molecular methods.Results: Of the 45180 samples,137 cases of RhD negative phenotype and 5 cases of weak D phenotype(IgM anti-D<3+)were screened by serological methods.10 types of RHD gene variants were detected by molecular methods.RHD(1227G>A)(29/142)and weak D type15(3/142)were the most common ones.There were 4 types of RHD-CE fusion gene.They were RHD-CE(2-9)-RHD(8/142)accounted for the largest number,RHD-RHCE(4-7)-RHD(2/142),DV type 2(Hybrid RHCE[5])(1/142)and DVI type3(Hybrid RHCE[3-6])(1/142)second.There were 4 types of rare single nucleotide mutation.They were partial DV type 1(c.667T>G and c.697G>C)(1/142),weak D type 33(c.520 G>A)(2/142),weak D type 40(c.602C>G)(1/142)and weak D type 100(c.787G>A)(1/142).Conclusion: The polymorphisms of RHD gene in Shenyang individuals were specific.They had important significance for establishing the blood management of RHD negative and variants and achieving accurate blood transfusion.