首页|芜湖地区初筛RhD阴性献血人群RHD基因分型特征

芜湖地区初筛RhD阴性献血人群RHD基因分型特征

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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*01W72/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.
RHD Genotyping Characteristics of RhD-Negative Blood Donors in Wuhu Area
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.

Rh blood typeRHD geneD variantSanger sequencing

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

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皖南医学院公共卫生学院,安徽芜湖 241002

聊城市中心血站血供科,山东聊城 252000

皖南医学院检验学院,安徽芜湖 241002

皖南医学院临床医学院,安徽芜湖 241002

芜湖市中心血站检验科,安徽芜湖 241000

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Rh血型 RHD基因 D变异型 Sanger测序

2024

中国实验血液学杂志
中国病理生理学会

中国实验血液学杂志

CSTPCD北大核心
影响因子:0.988
ISSN:1009-2137
年,卷(期):2024.32(5)