Department of Laboratory Medicine, Inje University College of Medicine, Busan, Korea.
Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Korea
Ann Clin Lab Sci. 2024 Jul;54(4):519-524.
The JR blood group system, officially designated ISBT JR 032, consists of a single antigen called Jr. This is a high frequency antigen in most populations. The Jr(a-) phenotype is more prevalent in Japanese and Asian populations. Individuals with the Jr(a-) blood type can be recognized incidentally by the production of anti-Jr(a) antibodies and verified by the existence of two null alleles.
We used direct sequencing to analyze the genotype frequency of the null allele () and compared it with East Asian genomic databases. We developed tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), which is a simple, precise method for determining an individual's genotype and suitable for clinical use, and analyzed a cohort of 300 healthy Koreans.
Using direct sequencing, we found that 14 individuals in the cohort carried a heterozygous null allele. We optimized the ARMS-PCR technique to detect and identify this null allele precisely. We identified the presence of this null allele in a heterozygous state using ARMS-PCR.
The minor allele frequency of the null allele in the Korean cohort was 2.3%. The estimated genotype frequencies of homozygotes and heterozygotes for this null allele are 0.05% and 4.56%, respectively. The newly developed ARMS-PCR assay would be useful for determining the Jr(a-) antigen status in patients who produce anti-Jr(a) antibodies as well as for selecting Jr(a-) blood donors.
JR 血型系统，正式命名为 ISBT JR 032，由一个称为 Jr 的单一抗原组成。这是大多数人群中的高频抗原。在日本和亚洲人群中，Jr(a-)表型更为常见。具有 Jr(a-)血型的个体可能会偶然产生抗-Jr(a)抗体，并通过两个无效等位基因的存在来验证。
我们使用直接测序分析无效等位基因()的基因型频率，并与东亚基因组数据库进行比较。我们开发了四引物扩增受阻突变系统聚合酶链反应（ARMS-PCR），这是一种确定个体基因型的简单、精确方法，适用于临床应用，并对 300 名健康韩国人进行了分析。
通过直接测序，我们发现队列中的 14 人携带杂合无效等位基因。我们优化了 ARMS-PCR 技术，以精确检测和识别该无效等位基因。我们使用 ARMS-PCR 确定了该无效等位基因的杂合状态。
韩国队列中无效等位基因的次要等位基因频率为 2.3%。该无效等位基因的纯合子和杂合子的估计基因型频率分别为 0.05%和 4.56%。新开发的 ARMS-PCR 检测方法将有助于确定产生抗-Jr(a)抗体的患者的 Jr(a-)抗原状态，以及选择 Jr(a-)献血者。
