RHC genotyping in Chinese Han population

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.