Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area.
10.3760/cma.j.cn511374-20220329-00211
- Author:
Na ZHANG
1
;
Huanhuan GAO
;
Hongjun GAO
Author Information
1. Jining Blood Center, Jining, Shandong 272041, China. charlesgaohj@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Phenotype;
Blood Donors;
Hemolysis;
Kidd Blood-Group System/genetics*;
Urea;
Molecular Biology
- From:
Chinese Journal of Medical Genetics
2023;40(5):609-613
- CountryChina
- Language:Chinese
-
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.
