A Novel Ael allele derived from a unique 816insG in Exon 7 of the ABO gene.
The ABO blood group system is the most important blood group system in transfusion medicine. In addition to the major A, B and O alleles, many rare alleles with weak expression of the A or B antigens on RBCs have been defined. We report here the molecular analysis of a novel A(el) allele. Exons 6 and 7 of the ABO gene were PCR-amplified, cloned and sequenced for the propositus, Mr C, who is a 56-year-old Taiwanese male and was incidentally observed to have an A(el) phenotype. His direct family members including wife, son and daughter were subsequently enrolled for further study. Three hundred random blood donors of AB phenotype served as control. A novel A(el) allele was uncovered from the propositus and his daughter, of which a unique 816insG mutation occurred on the A102 background that results in a frame shift leading to a 37-amino acid longer polypeptide than the normal A1 transferase, a finding similar to that of Ael01 allele with 804insG. We found that the C family carried a novel A(el) allele that differs molecularly from seven A(el) alleles reported in the literature.
Liu
Hsueng-Mei
HM
Section of Transfusion Medicine, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Chen
Ying-Ju
YJ
Chen
Pei-Shan
PS
Lyou
Jau-Yi
JY
Hu
Hui-Yu
HY
Ho
Yung-Tai
YT
Lin
Jeong-Shi
JS
Tzeng
Cheng-Hwai
CH
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013624:Taiwan
D000017:ABO Blood-Group System