Abstract: Objective To study and analyze the genotyping characteristics of RhD variant specimens in Xinjiang. Methods A total of 249 RhD variant specimens were collected with routine confirmatory test for RhD negative from January 2006 to June 2023. All specimens showing negative or equivocal agglutination were tested by IAT with three commercially available anti-D reagents, with D variant defined once it reacted positively with an anti-D, and RhCE phenotypic typing was performed. The genomic DNA of the D variant specimen was extracted, and the RHD genotype of the specimen was identified by PCR-SSP or qPCR. Exons of RHD gene were sequenced for verification if necessary. Results Among the 249 RhD variant specimens, 155 cases (62.25%) of weak D15 (RHD*15), 30 cases (12.05%) of DⅥ type 3 (RHD*06.03.01), 7 cases (2.81%) of weak D1 (RHD*01W.1), 2 cases (0.80%) of weak D17 (RHD*01W.17), 3 cases (1.20%) of DⅥ type 4 (RHD*06.04), 9 cases (3.61%) of DⅤ type 2 (RHD*05.02), 1 case (0.40%)of DⅢa (RHD*03.01),and 6 cases (2.41%) of DEL1227A (RHD*01EL.01) were detected. There were also 36 cases with indeterminate RHD gene, which were determined by gene sequencing. The common Rh phenotype of RHD*15 is ccEe. Conclusion RHD*15 is the most common RhD variant in Xinjiang and there are rich genetic polymorphisms for this locus.

Key words: RhD variant, RHD gene, Genotyping