芜湖地区初筛RhD阴性献血人群RHD基因分型特征  

RHD Genotyping Characteristics of RhD-Negative Blood Donors in Wuhu Area

作　　者：李梦楠 杜振军 刘静文 张睿 汪媛 曹典明 陶际春 邹陆辰 黄慧 孙恩涛 LI Meng-Nan;DU Zhen-Jun;LIU Jing-Wen;ZHANG Rui;WANG Yuan;CAO Dian-Ming;TAO Ji-Chun;ZOU Lu-Chen;HUANG Hui;SUN En-Tao(School of Public Health,Wannan Medical College,Wuhu 241002,Anhui Province,China;Blood Supply Section,Liaocheng Central Blood Station,Liaocheng 252000,Shandong Province,China;Inspection College,Wannan Medical College,Wuhu 241002,Anhui Province,China;School of Clinical Medicine,Wannan Medical College,Wuhu 241002,Anhui Province,China;Department of Inspection,Wuhu Central Blood Station,Wuhu 241000,Anhui Province,China)

机构地区：[1]皖南医学院公共卫生学院,安徽芜湖241002 [2]聊城市中心血站血供科,山东聊城252000 [3]皖南医学院检验学院,安徽芜湖241002 [4]皖南医学院临床医学院,安徽芜湖241002 [5]芜湖市中心血站检验科,安徽芜湖241000

出　　处：《中国实验血液学杂志》2024年第5期1531-1538,共8页Journal of Experimental Hematology

基　　金：国家自然科学基金(31870352);2021年度芜湖市卫生健康委科研项目(WHWJ2021y108)。

摘　　要：目的:了解芜湖地区献血者初筛RhD^(-)汉族人群的RHD基因分型的分子机制及分布特征。方法:收集2021年8月-2022年8月芜湖市中心血站无偿献血人群初筛RhD^(-)样本共210例,对样本的RHD基因第1、10号外显子进行PCR扩增,确定样本是否存在RHD基因。对含有D基因的82例样本RHD基因1-10号外显子进行PCR扩增及合子型分析,对55例含全部RHD外显子样本进行Sanger测序以确定基因型。结果:在210例RhD^(-)标本中,128例(60.38%)为RHD基因缺失;27例存在部分RHD外显子,包括2例RHD*DVI.3/RHD*01N.01,24例RHD*01N.04/RHD*01N.01和1例RHD-CE(2-10)/RHD*01N.01;55例含有全部RHD外显子,包括4例RHD*01/RHD*01N.01,6例RHD*15/RHD*01N.01,1例RHD*01 W.72/RHD*01N.01,1例RHD*15/RHD*01EL.01,39例RHD*01EL.01/RHD*01N.01,余下4例样本根据合子型分析确定不存在RHD基因缺失、测序显示存在1227G>A突变。结论:芜湖地区献血人群RhD^(-)D基因的分子机制存在多态性,其中RHD*01EL.01和RHD*15为本地区主要D变异型,本研究结果为本地区RhD血型鉴定和临床输血提供理论基础。Objective:To investigate the molecular mechanism and distribution characteristics of RhD negative phenotypes in Han population of blood donors in Wuhu city.Methods:A total of 210 RhD^(-)samples from August 2021 to August 2022 were screened by serological test and collected from Wuhu Central Blood Station for the voluntary blood donor population.Exons 1 and 10 of the RHD gene were amplificated by PCR to determine whether the samples had the RHD gene.Exons 1-10 of the RHD gene were amplificated by PCR and zygosity analysis were performed in 82 samples containing D gene,and Sanger sequencing was performed on 55 samples containing all RHD exons to determine the genotype.Results:Among 210 RhD^(-)specimens,128 cases(60.38%)had RHD gene deletion.27 cases had partial exons of RHD,including 2 cases with RHD*DVI.3/RHD*01N.01,24 cases with RHD*01N.04/RHD*01N.01,and 1 case with RHD-CE(2-10)/RHD*01N.01.55 cases had retained all of 10 exons,including 4 cases with RHD*01/RHD*01N.01,6 cases with RHD*15/RHD*01N.01,1 case with RHD*01W.72/RHD*01N.01,1 case with RHD*15/RHD*01EL.01,39 cases with RHD*01EL.01/RHD*01N.01,and the remaining 4 cases were determined to have no RHD gene deletion by zygosity analysis and sequencing showed the presence of 1227G>A mutation loci.Conclusion:There is polymorphism in the molecular mechanism of RhD^(-)D gene in Wuhu blood donor population,among which RHD*01EL.01 and RHD*15 are the main variants in this region.The results of this study provide a theoretical basis for RhD blood group identification and clinical blood transfusion in this region.

关 键 词：RH血型 RHD基因 D变异型 Sanger测序 

分 类 号：R446.11[医药卫生—诊断学]