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 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 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 m or AB 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 m 3·0 ) was demonstrated in the remaining individual. Comparisons of single‐nucleotide polymorphisms and microsatellites in intron 1 between B m 5·8 and B m 3·0 suggested that these deletions occurred independently.