湖南省RhD阴性献血人群11种红细胞血型系统基因频率及多态性研究  

Study on the gene frequency and polymorphism of 11 RBC blood group systems in RhD negtive population in Hunan, China

作　　者：邹彬彬[1] 谢毓滨[1] 阳智芬 王清[1] 晏永和 ZOU Binbin;XIE Yubin;YANG Zhifen;WANG Qing;YAN Yonghe(Changsha Blood Center,Changsha 410001,China.)

机构地区：[1]长沙血液中心,湖南长沙410001

出　　处：《中国输血杂志》2022年第2期144-148,共5页Chinese Journal of Blood Transfusion

基　　金：湖南省卫健委科技资助项目(B2017200)。

摘　　要：目的了解湖南省RhD阴性人群红细胞血型系统抗原基因频率的分布情况,为临床用血及建立多重稀有血型库建设奠定基础。方法抽取本中心2019年6月~2020年6月献血者中经血清学方法确认的300名RhD阴性献血者血样,采用SSP-PCR方法做RHD基因分型,对分型结果为RhD阴性RHD基因缺失型的献血者标本,采用SSP-PCR方法做红细胞MNS、Duffy、Kell、Dombrock、Diego、Kidd、Sciawnna、Colton、Lutheran和Yt血型系统抗原基因分型,并以SPSS20统计学软件其卡方检验做统计学分析。结果 RHD基因缺失型为血清学方法确认RhD阴性者的58.67%(176/300);其中MNS血型S+/s+/Mur+基因频率:GYPB;S 0.045 5(8/176)、GYPB;s 0.954 5(168/176)、GYP;Dane 0.039 8(7/176);Duffy血型基因频率:FY^(*)A 0.965 6(170/176),FY^(*)B 0.034 1(6/176);Dombrock血型基因频率:DO^(*)A 0.082 4(14.5/176),DO^(*)B 0.917 6(161.5/176);Diego血型基因频率:DI;A 0.025 6(4.5/176),DI;B 0.974 4(171.5/176);Kidd血型基因频率:JK;A 0.485 8(85.5/176),JK;B 0.514 2(90.5/176);Kell血型基因频率:KP^(*)A 0.005 7(1/176),KP^(*)B 0.994 3(175/176);Lutheran血型基因频率:LU^(*)A 0.005 7(1/176),LU^(*)B 0.994 3(175/176);Yt血型基因频率:YT^(*)A 0.002 8(0.5/176),YT^(*)B 0.997 2(175.5/176)。Kell血型的K+/k+、Scianna和Colton血型基因型分别为KEL^(*)02/KEL^(*)02,SC^(*)01/SC^(*)01和CO^(*)A/CO^(*)B。O型、RhD阴性及其他红细胞血型系统中低频抗原组合后的期望值频率为1/100 000~1/10 000。结论湖南省RhD阴性献血人群中,MNS、Duffy、Dombrock、Diego、Kidd、Kell和Lutheran血型系统基因呈多态性分布,Kell、Colton、Scianna血型基因型均为纯合子。筛选RhD阴性献血者所获取的其他红细胞血型系统资料对建立本地多重稀有血型资料库具有重要意义。Objective To investigate the gene frequency and polymorphism of RBC blood group systems in RhD negtive population in Hunan, so as to lay a foundation for clinical blood transfusion and construction of multiple rare blood group database. Methods Blood samples were taken from 300 RhD negative blood donors, confirmed by serological method, from June 2019 to June 2020,. RHD genotyping was performed by SSP-PCR. For blood donors with typing results as RhD negative plus RHD gene deletion, antigens genotyping of MNS, Duffy, Kell, Domrock, Diego, Kidd, Sciawnna, Colton, Lutheran and Yt RBC blood group systems were performed by SSP-PCR and analyzed by the chi square test of SPSS 20 statistical software. Results RHD gene deletions accounted for 58.67%(176/300) of serological D negative blood donors. The gene frequencies were as follows: MNS:GYPB;S=0.045 5(8/176),GYPB;s=0.954 5(168/176),GYP;Dane=0.039 8(7/176);Duffy: FY^(*)A =0.965 6(170/176),FY^(*)B=0.034 1(6/176);Dombrock: DO^(*)A=0.082 4(14.5/176),DO^(*)B=0.917 6(161.5/176);Diego: DI;A=0.025 6(4.5/176),DI;B =0.974 4(171.5/176);Kidd: JK;A=0.485 8(85.5/176),JK;B=0.514 2(90.5/176);Kell: KP^(*)A=0.005 7(1/176), KP^(*)B=0.994 3(175/176);Lutheran: LU^(*)A=0.005 7(1/176), LU^(*)B=0.994 3(175/176);Yt: YT^(*)A=0.002 8(0.5/176), YT^(*)B=0.997 2(175.5/176). The genotypes of Kell(K+/k+),Scianna and Colton blood groups were KEL^(*)02/KEL^(*)02,SC^(*)01/SC^(*)01 and CO^(*)A/CO^(*)B, respectively. The expected frequencies of the combination of type O, RhD negative and other blood group systems were between 1/100 000 to 1/10 000. Conclusion Among RhD negative blood donors in Hunan, the gene profiles of MNS, Duffy, Domrock, Diego, Kidd, Kell and Lutheran blood group system were polymorphic, and Kell(K+/k+), Colton and Scianna were homozygous. The data of other RBC blood group systems from RhD negative blood donors is of great significance to establish local database of rare blood groups.

关 键 词：RHD阴性 红细胞血型 基因频率 基因多态性 稀有血型资料库 献血者 湖南 

分 类 号：R457.11[医药卫生—治疗学]