Investigation on the distribution frequency of Rh and Kell blood group antigens in the Uyghur population in Xinjiang and the molecular mechanism of Kell positive individuals
10.13303/j.cjbt.issn.1004-549x.2022.10.003
- VernacularTitle:新疆地区维吾尔族人群Rh、Kell血型抗原分布频率调查及Kell阳性个体分子机制研究
- Author:
Jin QIU
1
;
Wei CHEN
1
;
Fei LI
1
;
Hongyan TIAN
1
;
Aibaidula SIKANDEER
1
;
Jun WEN
1
Author Information
1. Department of Blood Transfusion, Xinjiang Uygur Autonomous Region People′s Hospital, Uygur 830000, China
- Publication Type:Journal Article
- Keywords:
Rh antigen;
Kell antigen;
gene frequency;
exons;
point mutation of gene;
Xinjiang
- From:
Chinese Journal of Blood Transfusion
2022;35(10):1009-1013
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To investigate the distribution frequency and characteristics of Rh and Kell erythrocyte blood group antigens in Uygur population in Xinjiang, and to explore the molecular mechanism of K gene positive patients, so as to build a local rare blood group bank and improve the ability of clinical blood security. 【Methods】 From June 2018 to February 2020, blood samples of 4 000 unrelated Uygur healthy individuals from the Medical Examination Center of our hospital and other cooperative hospitals across the autonomous region were selected. Rh and Kell blood group antigens were detected using K/Rh antigen microcolumn gel cards. The exons of Kell gene were amplified by PCR and then subjected to electrophoresis and direct sequencing to investigate the molecular mechanism. 【Results】 In Xinjiang Uygur healthy population, 1) The RhD negative rate was 5.675% (227/4 000), including 5 phenotypes; RhD positive rate was 94.325% (3 773/4 000), including 9 phenotypes, which were in line with Hardy-Weinberg equilibrium distribution. The C/E antigen frequency in RhD negative and positive patients was 13.216%/4.185% vs 52.876%/25.788% (P<0.05). 2) The frequency of K antigen was 2.2% (88/4 000), and 15 samples were randomly selected for exon sequencing: four types of point mutations in exon 2, exon 4, exon 6 and exon 10 were g. 363T>C, g. 412A>G, exon 6, g. 133C>T, and g. 189T>C, respectively, two of which caused changes in amino acid sequence: alanine at position 193 to methionine (p.Ala193Met) and alanine 423 to valine (p.al423Val). The prediction of RNA secondary structure and protein conformation after mutation using relevant biological information software found that the mutation caused changes in RNA secondary structure, free energy, protein conformation and function. 【Conclusion】 The frequency of RhD antigen negative in Xinjiang Uygur population was higher than that in other ethnic groups, and the distribution of C/E antigen was different in D antigen negative/positive patients. The distribution of K antigen in Kell blood group system was higher than that in other ethnic groups (P<0.05). The primary and secondary structure changes of nascent peptide chain caused by a single point mutation in Kell gene may be one of the molecular mechanisms of K antigen positivity.
