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在巴西东南部的献血者人群中,RHD 变异等位基因的频率和特征:与其他人群的比较。

Frequency and characterization of RHD variant alleles in a population of blood donors from southeastern Brazil: Comparison with other populations.

机构信息

Center for Cell-Based Research, Regional Blood Center of Ribeirão Preto, School of Medicine of Ribeirão Preto, São Paulo, Brazil; University of São Paulo (USP), Ribeirão Preto, São Paulo, Brazil.

Center for Cell-Based Research, Regional Blood Center of Ribeirão Preto, School of Medicine of Ribeirão Preto, São Paulo, Brazil; University of São Paulo (USP), Ribeirão Preto, São Paulo, Brazil.

出版信息

Transfus Apher Sci. 2021 Aug;60(4):103135. doi: 10.1016/j.transci.2021.103135. Epub 2021 Apr 8.

Abstract

BACKGROUND

The correct determination of D antigen could help to avoid alloimmunization in pregnant women and patients receiving blood transfusions. However, there are limitations in the identification of D variants as the partial and weak D phenotypes make the determination of D antigen a great challenge in the transfusion routine.'

STUDY DESIGN AND METHODS

The molecular characterization of D variants was performed on blood donors from southeastern Brazil with atypical D typing. Furthermore, the serological profile of all RHD variant alleles identified was analyzed using different Anti-D clones. The prevalence of RHD alleles and genotypes found was compared with those described in other countries and in other regions from Brazil.

RESULTS

Atypical serologic D typing occurred in 0.79 % of blood donors. The majority of RHD variant alleles (88 %) were first characterized by multiplex PCR and PCR-SSP as RHDweak partial 4 (47 %), followed by RHDweak D type 3 (29.9 %), RHDweak D type 2 (3.9 %) and RHDweak D type 1 (3.1 %). Genomic DNA sequencing characterized the RHDweak partial 4 variants found in RHDDAR1.2 (weak 4.2.2) (22 %), RHDDAR3 (weak 4.0.1) (2.4 %), RHDDAR3.1 (weak 4.0) (22 %) and RHDDAR4 (weak 4.1) (0.8 %). RHD variant alleles associated with partial D, such as, RHDDAU-4 (1.6 %), RHDDAU-5 (2.4 %), RHDDAU-6 (1.6 %), RHD* DIII type 8 (1.6 %), RHDDVII (3.9 %) and RHD DMH (0.8 %) were also observed.

CONCLUSION

The prevalence of RHD variant alleles observed in this cohort differ from those found in other populations, including Brazilians from other regions. RHD allele distribution in specific regions should be considered for implementation of algorithms and genotyping strategies aiming at a more effective and safe transfusion.

摘要

背景

正确确定 D 抗原有助于避免孕妇和接受输血的患者发生同种免疫。然而,在鉴定 D 变体时存在局限性,因为部分和弱 D 表型使输血常规中 D 抗原的测定成为一项巨大挑战。

研究设计与方法

对来自巴西东南部具有非典型 D 型的献血者进行 D 变体的分子特征分析。此外,使用不同的抗-D 克隆分析鉴定出的所有 RHD 变体等位基因的血清学特征。比较了发现的 RHD 等位基因和基因型的流行率与其他国家和巴西其他地区的描述。

结果

在 0.79%的献血者中出现了非典型的血清学 D 型。大多数 RHD 变体等位基因(88%)首先通过多重 PCR 和 PCR-SSP 鉴定为 RHD弱部分 4(47%),其次是 RHD弱 D 型 3(29.9%)、RHD弱 D 型 2(3.9%)和 RHD弱 D 型 1(3.1%)。基因组 DNA 测序鉴定了在 RHDDAR1.2(弱 4.2.2)(22%)、RHDDAR3(弱 4.0.1)(2.4%)、RHDDAR3.1(弱 4.0)(22%)和 RHDDAR4(弱 4.1)(0.8%)中发现的 RHD弱部分 4 变体。还观察到与部分 D 相关的 RHD 变体等位基因,如 RHDDAU-4(1.6%)、RHDDAU-5(2.4%)、RHDDAU-6(1.6%)、RHDDIII 型 8(1.6%)、RHDDVII(3.9%)和 RHD*DMH(0.8%)。

结论

与其他人群,包括来自巴西其他地区的人群相比,本研究队列中观察到的 RHD 变体等位基因的流行率不同。在特定地区,应考虑 RHD 等位基因分布,以实施旨在实现更有效和安全输血的算法和基因分型策略。

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