논문KCI 등재
PacBio Third-Generation Sequencing Reveals an ABO Gene Promoter Mutation, c.–35_–18del, Leading to Weakened B Antigen Expression
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참고문헌 (10)
- Kominato Y, "Transcription of human ABO histo-blood group genes is dependent upon binding of transcription factor CBF", NF-Y to minisatellite sequence, 1997, pp.272, 25890~25898
- Thuresson B, "A novel B(weak)hybrid allele lacks three enhancer repeats but generates normal ABO transcript levels", Vox Sang, 102, pp.55~64 (2012)
- Cai X, "Molecular genetic analysis of ABO blood group variations reveals 29 novel ABO subgroup alleles", Transfusion, 53(11S2), pp.2910~2916 (2013)
- Isa K, "Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3", Vox Sang, 110, pp.285~287 (2016)
- Kim TY, "Molecular basis of weak A subgroups in the Korean population : identification of three novel subgroup-causing variants in the ABO regulatory regions", Transfusion, 62, pp.286~291 (2022)
- Sano R, "Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m)phenotype", Blood, 119, pp.5301~5310 (2012)
- Chen Z, "Application of third-generation sequencing in cancer research", Med Rev, 1, pp.150~171 (2021)
- Shao LN, "Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family", Vox Sang (2024)[DOI]
- Hata Y, "Characterization of the human ABO gene promoter in erythroid cell lineage", Vox Sang, 82, pp.39~46 (2002)
- Takahashi Y, "Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3, respectively", Vox Sang, 107, pp.171~180 (2014)
관련 논문AI추천
Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea김만진, 김보람, 김태열, 김형석, 박성섭, 성문우, 송다영, 양다해, 조성임대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제6호An Algorithm to Work-up ABO Subgroups Presenting as Weak B in a Real-world Laboratory: A Case with a Weak B Phenotype Harboring B101/O04-variant Alleles박 건, 박찬, 박주헌, 신명근, 원은정, 전성준대한진단검사의학회 · Laboratory Medicine Online2023 · 제13권 제2호Various ABO Genotyping-phenotyping Results for ABO Blood Group Discrepancy: A Retrospective Study김명신, 김용구, 유재은, 이수정, 이승옥, 채승완, 제갈동욱대한진단검사의학회 · Laboratory Medicine Online2023 · 제13권 제2호Identification of the ABOcis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea윤정, 남명현, 육희정, 임채승, 장미애, 장정희, 최지선, 최지호대한진단검사의학회 · Annals of Laboratory Medicine2016 · 제36권 제6호The M142T Mutation Causes B3 Phenotype: Three Cases and an in vitro Expression Study조덕, 기승정, 김수현, 서순팔, 신동준, 신명근, 신종희, 양동욱, 임춘화, 허영문, Mark Harris Yazer대한진단검사의학회 · Annals of Laboratory Medicine2010 · 제30권 제1호ABO*Ael03/O Genotype with ABO Discrepancy: The First Case in Korea남명현, 임채성, 장정희, 정보경, 조혜난, 최계령, 최지선, 현종진대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호
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