济宁地区无偿献血人群Jk(a-b-)表型的频率及分子遗传学分析  

Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area

作　　者：张娜[1] 高欢欢[1] 高宏军 Zhang Na;Gao Huanhuan;Gao Hongjun(Jining Blood Center,Jining,Shandong 272041,China;Jiangyin Libo Pharmaceutical Biotechnology Research Institute,Wuxi,Jiangsu 214437,China)

机构地区：[1]济宁市中心血站,济宁272041 [2]江阴市力博医药生物技术研究所,无锡214437

出　　处：《中华医学遗传学杂志》2023年第5期609-613,共5页Chinese Journal of Medical Genetics

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95500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0.0031%(3/95500)。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.647648delAC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 95500 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.

关 键 词：KIDD血型 Jk(a-b-)表型 尿素溶血试验 基因测序 

分 类 号：R394[医药卫生—医学遗传学]