泰国献血者 KEL*03 和 KEL*04 等位基因的基因组分析

IF 1 Q4 MEDICINE, RESEARCH & EXPERIMENTAL African Journal of Laboratory Medicine Pub Date : 2024-03-19 DOI:10.4102/ajlm.v13i1.2294
O. Nathalang, Panasya Rassuree, K. Intharanut, Wanlapa Chaibangyang, Núria Nogués
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引用次数: 0

摘要

背景:Kell 血型系统在输血医学中具有重要的临床意义,尤其是对具有 Kell 抗原特异性抗体的患者。迄今为止,泰国人群中 Kell 金属内肽酶(KEL)基因的遗传变异仍然未知:本研究旨在使用内部聚合酶链式反应-序列特异性引物(PCR-SSP)方法确定泰国献血者中 KEL*03 和 KEL*04 等位基因的频率:从 2023 年 3 月至 2023 年 6 月,在泰国巴吞他尼(Pathumthani)的一家血库采集了 805 名无血缘关系的泰国中心献血者的血样,使用柱凝集试验对 Kpa 和 Kpb 抗原进行了分型,并使用 DNA 测序对 400 份血样的结果进行了确认。开发了一种 PCR-SSP 方法来检测 KEL*03 和 KEL*04 等位基因,并使用已知 DNA 对照验证了基因分型结果。泰国中部(n = 2529)、北部(n = 300)和南部(n = 427)捐献者的 DNA 样本也使用 PCR-SSP 进行了基因分型,以进行比较:结果:所有 805 名(100%)供体都有 Kp(a-b+)表型。PCR-SSP 基因分型结果与柱凝集试验和 DNA 测序结果一致。所有 3256 名泰国献血者均为同型 KEL*04/KEL*04 基因型。泰国献血者中 KEL*03 和 KEL*04 等位基因的频率与日本、美国本地人、南非人、巴西人、瑞士人和德国人的频率有显著差异:本研究发现,在三个泰国人群中,KEL*04 等位基因的频率为 100%。这些数据可提供有关 KEL*03 和 KEL*04 等位基因频率的信息,以估计泰国人群的同种免疫风险:本研究表明,内部 PCR-SSP 可用于确定 KEL*03 和 KEL*04 等位基因,以预测 Kpa 和 Kpb 抗原。尽管在泰国供体人群中只发现了同源的 KEL*04/KEL*04 基因型,但已建立的 PCR-SSP 方法可能有助于估计其他人群的同种异体免疫风险。
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Genomic analysis of KEL*03 and KEL*04 alleles among Thai blood donors
Background: The Kell blood group system is clinically important in transfusion medicine, particularly in patients with antibodies specific to Kell antigens. To date, genetic variations of the Kell metallo-endopeptidase (KEL) gene among Thai populations remain unknown.Objective: This study aimed to determine the frequencies of KEL*03 and KEL*04 alleles among Thai blood donors using an in-house polymerase chain reaction-sequence-specific primer (PCR-SSP) method.Methods: Blood samples obtained from 805 unrelated central Thai blood donors at a blood bank in Pathumthani, Thailand, from March 2023 to June 2023, were typed for Kpa and Kpb antigens using the column agglutination test, and the results for 400 samples were confirmed using DNA sequencing. A PCR-SSP method was developed to detect the KEL*03 and KEL*04 alleles, and genotyping results were validated using known DNA controls. DNA samples obtained from Thai donors in central (n = 2529), northern (n = 300), and southern (n = 427) Thailand were also genotyped using PCR-SSP for comparison.Results: All 805 (100%) donors had the Kp(a−b+) phenotype. The PCR-SSP genotyping results agreed with the column agglutination test and DNA sequencing. All 3256 Thai blood donors had the homozygous KEL*04/KEL*04 genotype. Frequencies of the KEL*03 and KEL*04 alleles among Thai donors differed significantly from those of Japanese, Native American, South African, Brazilian, Swiss, and German populations.Conclusion: This study found a 100% KEL*04 allele frequency in three Thai populations. These data could provide information on KEL*03 and KEL*04 allele frequencies to estimate the risk of alloimmunisation in Thai populations.What this study adds: This study demonstrates that in-house PCR-SSP can be used to determine KEL*03 and KEL*04 alleles to predict Kpa and Kpb antigens. Even though only homozygous KEL*04/KEL*04 genotypes were found among Thai donor populations, the established PCR-SSP method may be useful for estimating the risk of alloimmunisation in other populations.
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来源期刊
African Journal of Laboratory Medicine
African Journal of Laboratory Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
1.70
自引率
9.10%
发文量
53
审稿时长
12 weeks
期刊介绍: The African Journal of Laboratory Medicine, the official journal of ASLM, focuses on the role of the laboratory and its professionals in the clinical and public healthcare sectors,and is specifically based on an African frame of reference. Emphasis is on all aspects that promote and contribute to the laboratory medicine practices of Africa. This includes, amongst others: laboratories, biomedical scientists and clinicians, medical community, public health officials and policy makers, laboratory systems and policies (translation of laboratory knowledge, practices and technologies in clinical care), interfaces of laboratory with medical science, laboratory-based epidemiology, laboratory investigations, evidence-based effectiveness in real world (actual) settings.
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