부산대학교 도서관

RHDblood group alleles with reduced or absent antigen expression are a clinically significant and heterogeneous group.To detail population genetics data on apparently D– individuals in central Europe, a six-center study was performed with participants from Austria, Germany, Slovenia, Switzerland, and Russia. A total of 1700 serologically D– samples, positive for C and/or E, were investigated.Observed unexpressedRHDalleles were 59RHD-CE-D+ hybrid alleles, 9 apparently regularRHD, 1 newRHD(Y401X); DELs were 8RHD(M295I), 6RHD(IVS3+1G>A), and 1 newRHD(X418L); and weakly expressedRHDs were 2 weak D type 5, 1 weak D type 1, 1RHDcategory VI type 1, and 1 novel weak D type 26. Although weak D type 26 was shown to have one of the lowest D antigen densities ever observed, it gave rise to anti-D immunization in a transfused D– individual.The relative occurrence ofRHDamong serologically D– samples, positive for C and/or E, differed significantly in the investigated central European regions. Considering the growing use of molecular typing techniques, correct identification of blood group alleles with scarce or missing antigen expression is of utmost clinical importance and requires reliable population-based frequency data. [ABSTRACT FROM AUTHOR]