A 3.0-kb deletion including an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene in an individual with the B sub(m) phenotype

• Published in: Vox sanguinis Vol. 108; no. 3; pp. 310 - 313
• Main Authors: Sano, R, Kuboya, E, Nakajima, T, Takahashi, Y, Takahashi, K, Kubo, R, Kominato, Y, Takeshita, H, Yamao, H, Kishida, T, Isa, K, Ogasawara, K, Uchikawa, M
• Format: Journal Article
• Language: English
• Published: 01.04.2015
• ISSN: 0042-9007; 1423-0410
• DOI: 10.1111/vox.12216

We developed a sequence-specific primer PCR (SSP-PCR) for detection of a 5.8-kb deletion (B super(m)5.8) involving an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene. Using this SSP-PCR, we performed genetic analysis of 382 individuals with B sub(m) or AB sub(m). The 5.8-kb deletion was found in 380 individuals, and disruption of the GATA motif in the regulatory element was found in one individual. Furthermore, a novel 3.0-kb deletion involving the element (B super(m)3.0) was demonstrated in the remaining individual. Comparisons of single-nucleotide polymorphisms and microsatellites in intron 1 between B super(m)5.8 and B super(m)3.0 suggested that these deletions occurred independently.