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【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% (PC, 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.
RESUMEN
BACKGROUND: The demand for Rh-related and other specific antigen negative donations has increased recently, and in response, we need to improve work efficiency while decreasing reagent consumption. Thus, we desire to create a ‘table of Nambu Blood Laboratory Center's own Rh-related and other antigen negative rate’. METHODS: We analyzed the results of Rh-related specific antigen test for 2,806,330 donors using ‘PK-7300’ and the results of manual test for 10,024 other blood type antigen-related specific and compound antigens. We made a table summarizing the results using two cases. RESULTS: The negative rate of Rh-related specific antigens was approximately 12.9% for C, 41.7% for c, 49.5% for E, and 9.2% for e antigens. The negative rate of compound antigens was increased when compared with the number of inspections. The negative rate for C and e antigens was increased from 90.1% to 97.3%, and that for E, c, and JKa was increased from 7.6% to 31.6%. CONCLUSION: The negative rate table made in July 2016 has been determined to be very effective in screening for specific and compound antigen negative blood. Also it was very efficient in terms of examining and supplying the compound antigen negative blood. It would be helpful to improve the supply of specific antigen negative blood to better meet the unique needs of each medical institution.