BACKGROUND AND OBJECTIVES: Genetic analysis of group B donors in Korea was performed. MATERIALS AND METHODS: Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3. RESULTS: Consensus sequences all B3 and 2/6 A1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, B(var), in the context of A101/ or A102/B(var) genotypes. Family studies based on an A1B3 donor with the B(var) allele and on another unrelated subject with identical genotype and phenotype revealed B(var)/O01 genotypes with full B-antigen expression. CONCLUSIONS: B(var) allele is subject to differential expression, depending on the co-inherited ABO allele.
BACKGROUND AND OBJECTIVES: Genetic analysis of group B donors in Korea was performed. MATERIALS AND METHODS: Exons 6 and 7 were sequenced in 12 phenotypically B3 donors 6 B3, 6 A1B3. RESULTS: Consensus sequences all B3 and 2/6 A1B3 donors were present. Four A1B3 donors demonstrated a novel B allele, B(var), in the context of A101/ or A102/B(var) genotypes. Family studies based on an A1B3 donor with the B(var) allele and on another unrelated subject with identical genotype and phenotype revealed B(var)/O01 genotypes with full B-antigen expression. CONCLUSIONS: B(var) allele is subject to differential expression, depending on the co-inherited ABO allele.
Authors: Bo Kyeung Jung; Gye-Ryung Choi; Jung Hee Chang; Hye Nan Cho; Jong Jin Hyun; Myung-Hyun Nam; ChaeSeung Lim; Ji Seon Choi Journal: Ann Lab Med Date: 2014-12-08 Impact factor: 3.464