A novel cis-AB allele derived from a unique 796C>A mutation in exon 7 of ABO gene

Tzeng, Cheng-HwaiCheng-HwaiTzengChen, Ying-JuYing-JuChenLyou, Jau-YiJau-YiLyouChen, Pei-ShanPei-ShanChenLiu, Hsueng-MeiHsueng-MeiLiuHu, Hui-YuHui-YuHuLin, Jeong-ShJeong-ShLinYu, Lung-ChihLung-ChihYu2009-08-052018-07-062009-08-052018-07-06200500411132http://ntur.lib.ntu.edu.tw//handle/246246/163222https://www.scopus.com/inward/record.uri?eid=2-s2.0-12544256549&doi=10.1111%2fj.1537-2995.2005.04108.x&partnerID=40&md5=3a7a4f741a2b9d4502c3b2f24719630eBACKGROUND: The cis-AB phenotype is very rare, and only three genotypes that correspond to specific ABO allele changes have been reported. Cis-AB01 involves the A102 allele with a nonsynonymous substitution G803C in exon 7, whereas cis-AB02 and cis-AB03 involve different nonsynonymous substitutions A796C and C700T, respectively, on the B101 allele background. The nucleotide substitutions give rise to a change of the respective glycosyltransferase, resulting in varying bifunctional AB transferase activities. STUDY DESIGN AND METHODS: Two cis-AB phenotypes were identified in a Taiwanese C. family and two unrelated individuals, respectively. Serologic studies, molecular cloning, and sequencing of exon 6 and exon 7 were carried out to determine their respective phenotypic characteristics and cis-AB alleles. A cohort of 300 AB-phenotype, healthy random individuals served as controls. RESULTS: A novel cis-AB allele is uncovered out of the three family members, of which a 796C>A substitution occurs predicting an amino acid change at residue 266 of leucine to methionine on the background of A102 allele. It is serologically like cis-AB03, an A 2B phenotype, but molecularly different. Both of the two unrelated individuals are of cis-AB01 allele, and all of the 300 AB blood group controls are excluded cis-AB phenotype. CONCLUSION: The C. family described carries a novel cis-AB allele that differs molecularly from all previously reported cis-AB alleles.application/pdf125273 bytesapplication/pdfen-USleucine; methionine; allele; article; blood group AB; blood group ABO system; controlled study; exon; exon 6; exon 7; gene mutation; gene sequence; human; molecular cloning; phenotype; serology; Taiwan; ABO Blood-Group System; Alleles; Exons; Female; Humans; MutationA novel cis-AB allele derived from a unique 796C>A mutation in exon 7 of ABO genejournal article10.1111/j.1537-2995.2005.04108.x156470182-s2.0-12544256549http://ntur.lib.ntu.edu.tw/bitstream/246246/163222/1/07.pdf