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郑州地区RhD变异型献血者分子生物学分析

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目的 研究郑州地区RhD变异型献血者血清学特征及基因突变机制。方法 选择 2023 年 1 月—2023年12 月送至本实验室的 1 619 名RhD阴性献血者为研究对象,应用试管法和微柱凝胶间接抗球蛋白试验方法进行RhD阴性确认试验及RhCE表型检测。采用RHD基因扩增和Sanger测序检测RhD变异型标本基因型。结果 RhD阴性确认试验共检出RhD变异型 69 例,比例为 4。26%(69/1619)。RhCE表型分别为ccEe、Ccee、CcEe、CCee。包含 17 种基因型,15 种D变异型表型。RHD*weak partial 15 等位基因最多(33 例),频率为 47。83%(33/69),主要表型为ccEe;其次是RHD*DVI。3 等位基因 20 例,频率为 28。99%(20/69),主要表型为Ccee。RHD*weak partial 15/RHD*01EL。01 杂合子 3 例,频率为 4。35%(3/69),皆为CcEe表型。其他罕见基因型共 13 例,频率为 18。84%(13/69)。抗筛阳性 3 例,比例为 4。35%(3/69)。女性献血者 2 名,皆有孕产史,经抗体鉴定为抗-D;男性献血者 1 名,为抗-M。结论 郑州地区RhD变异型献血者中RHD*weak partial 15 基因型最常见,其次为RHD*DVI。3 基因型。对保障安全供血,指导临床精准输血具有重要作用。
Molecular biological analysis of RhD variant blood donors in Zhengzhou
Objective To investigate the serological characteristics and gene mutation mechanism of RhD variant blood donors in Zhengzhou.Methods From January 2023 to December 2023,1 619 RhD-negative blood donors sent to our labora-tory were selected for the study,and RhD negative confirmation test and RhCE phenotype detection were applied by tube method and microcolumn gel indirect antiglobulin test method.RHD gene amplification and Sanger sequencing were used to detect RhD variant sample genotypes.Results A total of 69 cases of RhD variants were detected in the RhD negative con-firmation test,with a proportion of 4.26%(69/1 619).The RhCE phenotypes were ccEe,Ccee,CcEe and CCee.There were 17 genotypes and 15 phenotypes of the D variant.The RHD∗weak partial 15 allele was the most frequent(33 cases),with a frequency of 47.83%(33/69),and the main phenotype was the ccEe.This was followed by the RHD∗DVI.3 allele in 20 ca-ses with a frequency of 28.99%(20/69)and the predominant phenotype was Ccee.The RHD∗weak partial 15/RHD∗01EL.01 heterozygote was found in 3 cases with a frequency of 4.35%(3/69),all with the CcEe phenotype.Other rare genotypes were present in 13 cases with a frequency of 18.84%(13/69).Antibody screening was positive in 3 cases with a frequency of 4.35%(3/69).Two cases of female blood donors,both with history of pregnancy and childbirth,were identified as anti-D;one case of male donor was anti-M.Conclusion The RHD∗weak partial 15 genotype was the most common among the RhD variants in blood donors in Zhengzhou,followed by the RHD∗DVI.3 genotype.It plays an important role in guarantee-ing the safety of blood supply and guiding precision transfusion.

Rh blood groupRhD variantgenotypemolecular biologyZhengzhou

杨贺才、曾群娟、马晓莉、吕永磊、耿明璐、王丽萍

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河南省红十字血液中心,河南 郑州 450000

达州市中心医院

Rh血型 RhD变异型 基因型 分子生物学 郑州

河南省医学科技攻关计划项目

LHGJ20220260

2024

中国输血杂志
中国输血协会 中国医学科学院输血研究所

中国输血杂志

CSTPCD
影响因子:1.279
ISSN:1004-549X
年,卷(期):2024.37(8)