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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.
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Introducción: Los sistemas sanguíneos ABO, Rh y Kell son lo más relevantes desde el punto de vista clínico por su inmunogenicidad y ser los principales causantes de reacciones hemolíticas. Objetivo: Determinar las frecuencias de los grupos sanguíneos ABO y Rh, y la frecuencia del antígeno Kell en pacientes y donantes de Costa Rica. Métodos: Durante el periodo de 2009 al 2018 se obtuvo de las bases de datos de los bancos de sangre de tres hospitales de adultos de Costa Rica, las frecuencias de los grupos sanguíneos ABO, Rh y Kell en muestras de donantes y pacientes. Para contrastar las frecuencias de cada grupo sanguíneo se realizó una prueba de independencia de variables Chi cuadrado, con el 95 por ciento de confianza. Los datos se analizaron con el paquete estadístico SPSS versión 23. Resultados: Las frecuencias de los grupos ABO en las muestras de donantes y pacientes mostraron diferencias pequeñas pero significativas. La frecuencia del fenotipo Rh D negativo fue más alta en pacientes (8,0 por ciento) que en donantes (6,1 por ciento). Se estimaron las frecuencias de los antígenos C (67,8 por ciento), c (80,5 por ciento), E (41,4 por ciento), e (94,4 por ciento) y K (3,1 por ciento) a partir de las muestras de los donantes. Conclusiones: Las estrategias de reclutamiento de donantes de sangre aumentan la frecuencia del fenotipo Rh negativo en donantes con respecto a los pacientes. Las estadísticas recopiladas demuestran un aumento en la frecuencia del grupo O en comparación con los últimos estudios relacionados. Finalmente, los otros antígenos presentaron pocas variaciones en comparación a estudios previos(AU)
Introduction: The ABO, Rh and Kell blood systems are the most relevant from the clinical point of view, due to their immunogenicity and because they are the main causes of hemolytic reactions. Objective: To determine the frequencies of ABO and Rh blood groups, and the frequency of the Kell antigen in patients and donors from Costa Rica. Methods: During the period from 2009 to 2018, the frequencies of ABO, Rh and Kell blood groups in donor and patient samples were obtained from the blood bank databases of three adult hospitals in Costa Rica. To contrast the frequencies of each blood group, a chi-square test of independence of variables was performed, with 95 percent confidence interval. The data were analyzed with the statistical package SPSS version 23. Results: The frequencies of ABO groups in donor and patient samples showed small but significant differences. The frequency of the negative Rh D phenotype was higher in patients (8.0 percent) than in donors (6.1 percent). The frequencies of the antigens C (67.8 percent), c (80.5 percent), E (41.4 percent), e (94.4 percent), and K (3.1 percent) were estimated from donor samples. Conclusions: Blood donor recruitment strategies increase the frequency of negative Rh phenotype in donors compared to patients. The statistics collected demonstrate an increase in the frequency of the O group compared to recent related studies. Finally, the other antigens did not show as much variation compared to previous studies(AU)