Department of Transfusion Medicine, ICMR-National Institute of Immunohaematology, Mumbai, Maharashtra, India.
Transfus Med. 2021 Apr;31(2):129-135. doi: 10.1111/tme.12756. Epub 2021 Jan 11.
This study evaluated the red blood cell (RBC) Lewis phenotypes by simple haemagglutination technique and molecular genotyping in healthy individuals.
The expression of Lewis antigen on RBCs is dependent on the interaction of FUT3 and FUT2 genes. Complexity of the genetic control of Lewis antigen expression and the error-prone nature of Lewis phenotyping result in non-genuine RBC Lewis phenotypes, which could be misleading.
ABO blood group and RBC Lewis phenotypes were determined by conventional haemagglutination tube techniques. FUT2 and FUT3 genotypes were analysed by polymerase chain reaction and direct DNA sequencing. The RBC Lewis phenotypes were also inferred from the FUT2 and FUT3 genotyping results.
The frequencies of RBC Lewis phenotypes typed by the conventional tube test were Le(a+b-) 19.63%, Le(a-b+) 49.32% and Le(a-b-) 31.05%, whereas the frequencies inferred from the FUT2 and FUT3 genotypes were Le(a+b-) 20.09%, Le(a-b+), 59.82%; Le(a-b-), 17.81%; and Le(a+b+), 5 (2.28%). The Le(a+b+) phenotype was not detected by the tube test, and a significant difference was observed in the frequencies of the determined Le(a-b-) and Le(a-b+) phenotypes.
The phenotyping and genotyping of Lewis blood group system reveal a high rate of discordance in the frequencies of Lewis phenotypes among the healthy individuals.
本研究通过简单的血凝技术和分子基因分型评估健康个体的红细胞(RBC)Lewis 表型。
红细胞上 Lewis 抗原的表达取决于 FUT3 和 FUT2 基因的相互作用。Lewis 抗原表达的遗传控制的复杂性和 Lewis 表型鉴定的易错性导致非真实的 RBC Lewis 表型,这可能会产生误导。
采用常规血凝管技术确定 ABO 血型和 RBC Lewis 表型。通过聚合酶链反应和直接 DNA 测序分析 FUT2 和 FUT3 基因型。还可以根据 FUT2 和 FUT3 基因分型结果推断 RBC Lewis 表型。
常规试管试验测定的 RBC Lewis 表型频率为 Le(a+b-)19.63%、Le(a-b+)49.32%和 Le(a-b-)31.05%,而根据 FUT2 和 FUT3 基因型推断的频率为 Le(a+b-)20.09%、Le(a-b+)59.82%;Le(a-b-)17.81%;和 Le(a+b+)5(2.28%)。试管试验未检测到 Le(a+b+)表型,且确定的 Le(a-b-)和 Le(a-b+)表型频率存在显著差异。
Lewis 血型系统的表型和基因分型揭示了健康个体中 Lewis 表型频率存在较高的不一致性。