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 Bm phenotype |
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| Authors: | R. Sano E. Kuboya T. Nakajima Y. Takahashi K. Takahashi R. Kubo Y. Kominato H. Takeshita H. Yamao T. Kishida K. Isa K. Ogasawara M. Uchikawa |
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| Affiliation: | 1. Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan;2. Department of Legal Medicine, Shimane University School of Medicine, Izumo, Japan;3. Inoue Hospital, Nobeoka, Japan;4. Department of Legal Medicine, Oita University, Yuhu, Japan;5. Japanese Red Cross Central Blood Institute, Tokyo, Japan;6. Japanese Red Cross Kanto‐Koshinetsu Block Blood Center, Tokyo, Japan |
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| Abstract: | We developed a sequence‐specific primer PCR (SSP‐PCR) for detection of a 5·8‐kb deletion (Bm5·8) 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 Bm or ABm. 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 (Bm3·0) was demonstrated in the remaining individual. Comparisons of single‐nucleotide polymorphisms and microsatellites in intron 1 between Bm5·8 and Bm3·0 suggested that these deletions occurred independently. |
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