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. Issue 3 (18th December 2014)

• Record Type: Journal Article
• 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.
• Is Part Of: Vox sanguinis. Volume 108:Issue 3(2015)
• Page Start: 310
• Page End: 313
• Publication Date: 2014-12-18
• Subjects: Blood -- Periodicals; Blood -- Transfusion -- Periodicals; Immunohematology -- Periodicals; Immunopathology -- Periodicals; 615.39
• DOI: 10.1111/vox.12216
• Languages: English
• ISSNs: 0042-9007

Abstract

<abstract abstract-type="main" id="vox12216-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We developed a sequence‐specific primer PCR (SSP‐PCR) for detection of a 5·8‐kb deletion (<italic>B</italic>^{<italic>m</italic>}<italic>5·8</italic>) 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 (<italic>B</italic>^{<italic>m</italic>}<italic>3·0</italic>) was demonstrated in the remaining individual. Comparisons of single‐nucleotide polymorphisms and microsatellites in intron 1 between <italic>B</italic>^{<italic>m</italic>}<italic>5·8</italic> and <italic>B</italic>^{<italic>m</italic>}<italic>3·0</italic> suggested that these deletions occurred independently.</p> </abstract>