RHC genotyping in Chinese Han population

Abstract

Abstract The Rh blood group is a complex, polymorphic system with 56 antigens. Accurately predicting the presence of the C antigen using genotyping methods has been challenging. This study aimed to evaluate different genotyping methods for C predicting and identifying associated genetic variations in the Chinese Han population. In total, 317 donors, including 223 D+ (including 20 with the Del phenotype) and 94 D− were randomly selected. Real-time PCR of the 48C and 109bp insertion, and restriction fragment length polymorphism of −292 substitutions were used for RHC genotyping. Moreover, the promoter region of the RHCE gene was sequenced to search for other nucleotide substitutions between RHC and RHc. The 109bp insertion method showed the highest accuracy in predicting the C phenotype. Sequencing showed that seven SNPs in the promoter and exon 1 of the RHCE gene were associated with the C phenotype. However, these SNPs also showed a few false positive results. The accuracy of the SNPs in predicting C, in descending order, was found to be rs586178>rs4649082, rs2375313, rs2281179, rs2072933, and rs2072932>rs2072931. Although the identified SNPs alone cannot independently and accurately correlate with the C phenotype, combining them with the 109bp insertion test can improve the accuracy of predicting C.