Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area
张娜 1高欢欢 1高宏军 2李岭
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作者信息
1. 1济宁市中心血站，济宁 272041
2. 2江阴市力博医药生物技术研究所，无锡 214437
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摘要
目的 筛查济宁地区无偿献血人群的Jk(a-b-)表型，并分析其分子遗传学基础，完善本地的稀有血型库。 方法 选取济宁市中心血站2019年7月至2021年1月的无偿献血人群为研究对象。用2 mol/L尿素法筛查Jk(a-b-)表型，用经典血清学方法确认结果，并对SLC14A1基因第3 ~ 10外显子及其侧翼区进行Sanger测序分析。 结果 在95 500份无偿献血者的样本中，尿素溶血实验共3例未发生溶血现象，经血清学方法复核为Jk(a-b-)表型且均无抗-Jk3抗体。济宁地区Jk(a-b-)表型的分布频率为0.0 031%(3/95 500)。经基因测序和单体型分析，确认3例样本的基因型分别为JK*02N.01/JK*02N.01、JK*02N.01/JK-02-230A以及JK*02N.20/JK-02-230A。 结论 SLC14A1基因第4内含子c.342-1G>A剪接变异、第4外显子c.230G>A以及第6外显子c.647_648delAC为本地区人群Jk(a-b-)表型相关的变异位点，与国内其他地区有所不同，其中c.230G>A变异既往未见报道。 Objective To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region. Methods The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing. Results Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively. Conclusion The splicing variant of c. 342-1G>A in intron 4, missense variants of c. 230G>A in exon 4, and c. 647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c. 230G>A variant was unreported previously.
Abstract
Objective To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region. Methods The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing. Results Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively. Conclusion The splicing variant of c. 342-1G>A in intron 4, missense variants of c. 230G>A in exon 4, and c. 647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c. 230G>A variant was unreported previously.
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