泰国东北部少数民族中 RHCE、Kell、Duffy、Kidd、Diego 和 MNS 混合糖蛋白血型的遗传概况:等位基因、基因型和同种免疫风险。

IF 1.5 4区 医学 Q3 HEMATOLOGY Transfusion Medicine Pub Date : 2024-08-01 Epub Date: 2024-05-28 DOI:10.1111/tme.13055
Piyapong Simtong, Amonrat Jumnainsong, Chanvit Leelayuwat
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引用次数: 0

摘要

背景:血型抗原抗体在溶血性输血反应(HTR)和胎儿及新生儿溶血病(HDFN)的病理生理学中起着关键作用。本研究旨在确定泰国东北部少数民族中具有临床意义的血型系统的等位基因频率、基因型和同种免疫风险:方法:使用内部 PCR 序列特异性引物(PCR-SSP)方法对 345 名无血缘关系、健康的泰国东北部少数民族进行检测,同时对 RHCE、Kell、Duffy、Kidd、Diego 和 MNS 糖原杂交体进行基因分型,并通过桑格测序确认结果:在该队列中,等位基因RHCE*C(81.0%)和RHCE*e(84.8%)比RHCE*c(19.0%)和RHCE*E(15.2%)更普遍。最常见的 RHCE 等位基因预测单倍型组合是 C+c-E-e+(R1R1)(59.4%),其次是 C+c+E+e+(R1R2)(20.6%)和 C+c+E-e+(R1r)(11.3%)。本研究未发现 KEL*01 等位基因。FY*01 和 FY*02 的频率分别为 88.3% 和 11.7%。四个样本(1.2%)中发现了 FY*02/02 基因型。JK*01和JK*02的频率分别为52.5%和47.5%。在 81 个样本(23.5%)中发现了同型 JK*02/02。DI*01 和 DI*02 的频率分别为 0.6% 和 99.4%。总共有 64 个样本(18.6%)携带 MNS 糖原杂合体:我们的研究结果表明,在这些人群中,c、E、Fyb、Jka、Jkb 和 Mia 异体免疫的风险可能很高。此外,本研究中建立的临床重要血型基因分型方法现在可用于常规临床应用。
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Genetic profile of RHCE, Kell, Duffy, Kidd, Diego and MNS hybrid glycophorins blood groups in ethnic northeastern Thais: Alleles, genotypes and risk of alloimmunisation.

Background: Antibodies against blood group antigens play a key role in the pathophysiology of haemolytic transfusion reactions (HTRs) and haemolytic disease of the fetus and newborn (HDFN). This study aimed to determine the frequencies of alleles, genotypes, and risk of alloimmunisation of clinically significant blood group systems in ethnic northeastern Thais.

Methods: In total, 345 unrelated, healthy, ethnic northeastern Thais were tested using the in-house PCR-sequence specific primers (PCR-SSP) method for simultaneously genotyping of RHCE, Kell, Duffy, Kidd, Diego and MNS glycophorin hybrids and results confirmed by Sanger sequencing.

Results: In this cohort, the alleles RHCE*C (81.0%) and RHCE*e (84.8%) were more prevalent than RHCE*c (19.0%) and RHCE*E (15.2%). The most common predicted haplotype combinations of the RHCE alleles were C+c-E-e+(R1R1) (59.4%) followed by the C+c+E+e+ (R1R2) (20.6%) and C+c+E-e+ (R1r) (11.3%). The KEL*01 allele was not found in this study. The frequencies of FY*01 and FY*02 were 88.3% and 11.7%, respectively. The genotype FY*02/02 was found in four samples (1.2%). The frequencies of JK*01 and JK*02 were 52.5% and 47.5%, respectively. Homozygous JK*02/02 was found in 81 samples (23.5%). The frequencies of DI*01 and DI*02 were 0.6% and 99.4%, respectively. In total, 64 samples (18.6%) were found to carry the MNS glycophorin hybrids.

Conclusions: Our results indicated a possible high risk of c, E, Fyb, Jka, Jkb and Mia alloimmunisation in these populations. Moreover, methods established for genotyping clinically significant blood groups in this study can now be utilised in routine clinical application.

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来源期刊
Transfusion Medicine
Transfusion Medicine 医学-血液学
CiteScore
2.70
自引率
0.00%
发文量
96
审稿时长
6-12 weeks
期刊介绍: Transfusion Medicine publishes articles on transfusion medicine in its widest context, including blood transfusion practice (blood procurement, pharmaceutical, clinical, scientific, computing and documentary aspects), immunohaematology, immunogenetics, histocompatibility, medico-legal applications, and related molecular biology and biotechnology. In addition to original articles, which may include brief communications and case reports, the journal contains a regular educational section (based on invited reviews and state-of-the-art reports), technical section (including quality assurance and current practice guidelines), leading articles, letters to the editor, occasional historical articles and signed book reviews. Some lectures from Society meetings that are likely to be of general interest to readers of the Journal may be published at the discretion of the Editor and subject to the availability of space in the Journal.
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