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巴西东南部献血者中C/C抗原的分子研究及Rh血型表型频率

Molecular study of C /C antigens and frequency of Rh phenotypes in southeast Brazilian blood donors.

作者信息

Costa Sidneia S, Souza Silva Thamy C, Chiba Akemi Kuroda, Cruz Bruno R, Langhi Junior Dante Mário, Bordin José O

机构信息

Discipline of Hematology and Hemotherapy, Universidade Federal de São Paulo - UNIFESP, São Paulo, Brazil.

出版信息

J Clin Lab Anal. 2018 Oct;32(8):e22570. doi: 10.1002/jcla.22570. Epub 2018 Jun 21.

Abstract

BACKGROUND

The C (RH:8), C (RH:9), and MAR (RH:51) antigens are encoded by alleles at the Cc locus of the Rh system, where C and C are considered low-frequency antigens and antithetical to the high-frequency antigen MAR. The frequency of C (RH:8) is approximately 2% in Caucasians, 1% in Black people, 4% in Finns, and 9% in Latvians. The aim of this study was to determine the frequency of RhD+ phenotypes in a population of southeast Brazilian blood donors and to perform a molecular study to distinguish the RHCECe.08.01 and RHCECe.09 alleles, responsible for the C and C expressions, respectively.

METHODS

We investigated 11,536 RhD+ Brazilian blood donors. All samples were phenotyped for D, C, c, E, e, and C . In the C + samples, a molecular analysis was performed to detect the nucleotide substitutions A122G and G106A, which determine the C and C antigens, respectively.

RESULTS

C antigen was found in 110 (0.95%) samples in the following phenotypes: DC e/dC e (72/0.62%), DC e/DC e (30/0.26%), and DC e/DC E (8/0.07%). Among 110 C + samples, 108 showed the A122G nucleotide substitution associated with RHCECe.08.01 allele and 2 samples the G106A substitution associated with the RHCECe.09.01 allele.

CONCLUSION

This study showed the prevalence of the RhD+ phenotype in the Brazilian population, and that through the molecular study, it was possible to differentiate the RHCECe.08.01 and RHCECe.09.01 alleles. The phenotype frequency was similar from Black people (1%) and different from Caucasians, Finns, and Latvians.

摘要

背景

C(RH:8)、C(RH:9)和MAR(RH:51)抗原由Rh系统Cc基因座上的等位基因编码,其中C和C被认为是低频抗原,与高频抗原MAR相对。C(RH:8)在白种人中的频率约为2%,在黑人中为1%,在芬兰人为4%,在拉脱维亚人为9%。本研究的目的是确定巴西东南部献血者群体中RhD+表型的频率,并进行分子研究以区分分别负责C和C表达的RHCECe.08.01和RHCECe.09等位基因。

方法

我们调查了11536名RhD+巴西献血者。所有样本均进行了D、C、c、E、e和C表型检测。在C+样本中,进行分子分析以检测分别决定C和C抗原的核苷酸替换A122G和G106A。

结果

在110个(0.95%)样本中发现了C抗原,其表型如下:DC e/dC e(72/0.62%)、DC e/DC e(30/0.26%)和DC e/DC E(8/0.07%)。在110个C+样本中,108个显示与RHCECe.08.01等位基因相关的A122G核苷酸替换,2个样本显示与RHCECe.09.01等位基因相关的G106A替换。

结论

本研究显示了巴西人群中RhD+表型的流行情况,并且通过分子研究能够区分RHCECe.08.01和RHCECe.09.01等位基因。表型频率与黑人(1%)相似,与白种人、芬兰人和拉脱维亚人不同。

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