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Fig. 1.

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Fig. 1.

Results of the genetic analysis of the proband and her family members. (A) Long-range PCR with primers located in non-Rhesus box sequences. A 2,778-bp fragment was amplified by PCR, indicating the presence of a hybrid RHD gene (lanes I-1, II-1, and II-2). (B) Pedigree, Rh phenotypes, and RHD genotypes of the Korean DBS-1 family. The genotypes and phenotypes of the DBS-1 family were determined using combined data from sequencing analysis, hybrid Rhesus box PCR, and serological analysis. Black circles indicate the DBS-1 phenotype. The proband is indicated by a black arrow. Total RHD deletion is denoted as “d” in the genotype. (C) Part of the RHD nucleotide sequence in DBS reported by Wagner, et al. [3] and this case. In both cases, the 5′ breakpoint region was located between the RHD-specific c.642-249T and the first RHCE-specific nucleotide, c.667G (blue arrow). The 3′ breakpoint region, located between the last RHCE-specific nucleotide and the first RHD-specific nucleotide of intron 5, differed for each case; it was located between c.800 and c.801+101 in the case reported by Wagner, et al. [3] and between c.801+1463 and c.801+1505 in the current case (white arrow).

Ann Lab Med 2020;40:337~340 https://doi.org/10.3343/alm.2020.40.4.337

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