Alalshaikh Mohrah A, Alsughayir Ammar H, Alsaif Alyazeed S, Ababtain Sarah A, Aloyouni Shaika Y, Aldilaijan Khawlah E, Alsubaie Sahar F
Department of Clinical Laboratory Sciences, Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
King Fahad Medical City, The Saudi Society of Blood and Marrow Transplantation, Riyadh, Saudi Arabia.
Saudi J Med Med Sci. 2024 Jul-Sep;12(3):210-215. doi: 10.4103/sjmms.sjmms_664_23. Epub 2024 Jun 20.
The gene is one of the most complex blood group genes. The molecular background of the gene in RhD-negative and RhD-positive individuals varies within and among different populations. Knowing the molecular basis of the gene in a specific population is required to establish effective genotyping methods. While the molecular basis has been revealed in many ethnicities, such as Caucasians and Black Africans, it still requires elucidation in Arabs.
The aim of this study was to gain insights into the molecular basis of RhD-positive and RhD-negative phenotypes in Saudi donors.
Conventional serological tests were used to determine the Rh phenotypes in 136 Saudi donors by typing D, C, c, E, and e antigens. Multiplex-PCR and Single Specific Primer-PCR were used to detect the presence of exons 3, 4, and 7 and the gene, respectively, in RhD-negative and/or RhD-positive samples.
Of the 136 samples, 70 were RhD positive and 66 were RhD negative. None of the RhD-negative donors had any of the three tested exons, whereas the gene was detected in all, indicating the zygosity status of the deletion allele. The gene was detected in 79% of the RhD-positive individuals, suggesting high frequencies of -negative haplotypes.
The study findings indicate that Saudis with the RhD-negative phenotype are likely to have an entire deletion in the homozygous state. However, a more comprehensive analysis of variant alleles in the Saudi population is required to implement effective and dedicated molecular typing strategies.
该基因是最复杂的血型基因之一。RhD阴性和RhD阳性个体中该基因的分子背景在不同人群内部和之间存在差异。要建立有效的基因分型方法，需要了解特定人群中该基因的分子基础。虽然在许多种族中，如白种人和非洲黑人，其分子基础已被揭示，但在阿拉伯人中仍需阐明。
本研究旨在深入了解沙特献血者中RhD阳性和RhD阴性表型的分子基础。
采用传统血清学检测方法，通过对D、C、c、E和e抗原进行分型，确定136名沙特献血者的Rh表型。分别采用多重PCR和单特异性引物PCR检测RhD阴性和/或RhD阳性样本中第3、4和7外显子以及该基因的存在情况。
136份样本中，70份为RhD阳性，66份为RhD阴性。所有RhD阴性献血者均未检测到三个检测外显子中的任何一个，而在所有样本中均检测到该基因，表明该缺失等位基因的纯合状态。在79%的RhD阳性个体中检测到该基因，表明阴性单倍型频率较高。
研究结果表明，具有RhD阴性表型的沙特人可能在纯合状态下存在整个基因缺失。然而，需要对沙特人群中的变异等位基因进行更全面的分析，以实施有效且专门的分子分型策略。
