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

作者：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

来源：Vox Sanguinis, 2015, 108(3): 310-313.

DOI：10.1111/vox.12216

• ABO gene
• B-m
• enhancer
• SSP-PCR
• transcription

We developed a sequence-specific primer PCR (SSP-PCR) for detection of a 58-kb deletion (B(m)58) 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 58-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 30-kb deletion involving the element (B(m)30) was demonstrated in the remaining individual. Comparisons of single-nucleotide polymorphisms and microsatellites in intron 1 between B(m)58 and B(m)30 suggested that these deletions occurred independently.

• 出版日期2015-4