Clinical Genetics
Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area
Zhang Na, Gao Huanhuan, Gao Hongjun
Published 2023-05-10
Cite as Chin J Med Genet, 2023, 40(5): 609-613. DOI: 10.3760/cma.j.cn51137420220329-00211
Abstract
ObjectiveTo 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.
MethodsThe 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.
ResultsAmong 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.
ConclusionThe 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.
Key words:
Kidd blood group; Jk(a-b-) phenotype; Urea lysis assay; Gene sequencing
Contributor Information
Zhang Na
Jining Blood Center, Jining, Shandong 272041, China
Gao Huanhuan
Jining Blood Center, Jining, Shandong 272041, China
Gao Hongjun
Jiangyin Libo Pharmaceutical Biotechnology Research Institute, Wuxi, Jiangsu 214437, China
