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中国人群中弱ABO亚群血清学特征的患病率及分布情况。

Prevalence and distribution of serological characteristics of weak ABO subgroups in the Chinese population.

作者信息

Wang Zhongying, Jin Sha, Zheng Jiewei, Qian Chenrui, Caib Xiaohong, Xiang Dong

机构信息

Blood Group Reference Laboratory, Shanghai Institute of Blood Transfusion, Shanghai Blood Center, Shanghai, China.

Transfusion Department, Ruijin Hospital, Medical School of Shanghai Jiao Tong University, Shanghai, China.

出版信息

Hematol Transfus Cell Ther. 2024 Nov;46 Suppl 5(Suppl 5):S115-S121. doi: 10.1016/j.htct.2024.04.127. Epub 2024 Sep 10.

DOI:10.1016/j.htct.2024.04.127
PMID:39521700
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11670600/
Abstract

OBJECTIVES

This study aimed to determine the true frequency of weak ABO subgroups and to investigate the serological characteristics of various subgroup alleles in the Chinese population.

METHODS

A total of 2,945,643 blood samples were collected from January 2009 to December 2017. After initial screening and re-examination using automatic blood group analyzers, all ABO-discrepant samples were confirmed by standard serological analysis and molecular detection by DNA sequencing. The true frequency of weak ABO subgroups was determined by the number of ABO subgroup donors and the missed detection rate. The ABO antigen expressions corresponding to subgroup alleles were analyzed by the agglutination intensity of red blood cells.

RESULTS

The detection rate of ABO subgroups was 0.031 % (927/2,945,643). Considering the missed detection rate (27.81 %), the true frequency of ABO subgroups in the Chinese population was 0.044 %. The three most common genetic variations among blood donors in Shanghai were BA.04, BW.12 and BA.02. BW.03 showed the weakest B antigen expression (6.00 ± 1.97) and B the strongest (9.20 ± 1.10).

CONCLUSION

Many ABO subgroups were missed. BA.04 was found to be the most common subgroup allele in the Chinese population. Different ABO subgroup alleles exhibit different ABO antigen expression patterns.

摘要

目的

本研究旨在确定弱ABO亚群的实际频率,并调查中国人群中各种亚群等位基因的血清学特征。

方法

2009年1月至2017年12月共采集2945643份血样。使用自动血型分析仪进行初步筛查和复查后,所有ABO血型不符的样本均通过标准血清学分析和DNA测序的分子检测进行确认。通过ABO亚群献血者数量和漏检率确定弱ABO亚群的实际频率。通过红细胞凝集强度分析与亚群等位基因对应的ABO抗原表达。

结果

ABO亚群的检出率为0.031%(927/2945643)。考虑到漏检率(27.81%),中国人群中ABO亚群的实际频率为0.044%。上海献血者中三种最常见的基因变异是BA.04、BW.12和BA.02。BW.03的B抗原表达最弱(6.00±1.97),B抗原表达最强(9.20±1.10)。

结论

许多ABO亚群被漏检。发现BA.04是中国人群中最常见的亚群等位基因。不同的ABO亚群等位基因表现出不同的ABO抗原表达模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6624/11670600/77def23988a2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6624/11670600/a0828e78266f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6624/11670600/77def23988a2/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6624/11670600/a0828e78266f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6624/11670600/77def23988a2/gr2.jpg

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本文引用的文献

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Transfusion. 2022 Oct;62(10):E55-E58. doi: 10.1111/trf.17109. Epub 2022 Sep 20.
2
Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles.对中国人中弱 ABO 亚型的分子遗传分析揭示了十个新的 ABO 亚型等位基因。
Blood Transfus. 2019 May;17(3):217-222. doi: 10.2450/2018.0091-18. Epub 2018 Sep 3.
3
p.R180C mutation of glycosyltransferase B leads to B subgroup, an in vitro and in silico study.
糖基转移酶B的p.R180C突变导致B血型亚群:一项体外和计算机模拟研究
Vox Sang. 2018 May 4. doi: 10.1111/vox.12655.
4
The B allele with a 5·8 kb deletion in intron 1 of the ABO gene is the major allele in Japanese individuals with B and A B phenotypes.ABO基因第1内含子存在5.8kb缺失的B等位基因,是日本B型和AB型个体的主要等位基因。
Vox Sang. 2018 May;113(4):393-396. doi: 10.1111/vox.12642. Epub 2018 Feb 23.
5
An exonic missense mutation c.28G>A is associated with weak B blood group by affecting RNA splicing of the ABO gene.外显子错义突变c.28G>A通过影响ABO基因的RNA剪接与弱B血型相关。
Transfusion. 2017 Sep;57(9):2140-2149. doi: 10.1111/trf.14209. Epub 2017 Jun 26.
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Blood type, ABO genetic variants, and ovarian cancer survival.血型、ABO基因变异与卵巢癌生存率
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7
Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles.分子遗传学分析 ABO 血型变异揭示了 29 个新的 ABO 亚群等位基因。
Transfusion. 2013 Nov;53(11 Suppl 2):2910-6. doi: 10.1111/trf.12168. Epub 2013 Mar 22.
8
Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m) phenotype.ABO 血型基因的表达依赖于红细胞特异性调节元件,该元件在具有 B(m)表型的人中缺失。
Blood. 2012 May 31;119(22):5301-10. doi: 10.1182/blood-2011-10-387167. Epub 2012 Mar 9.
9
ABO research in the modern era of genomics.ABO 血型系统的基因组学研究。
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