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A unique 502C>T mutation in exon 7 of ABO gene associated with the B el phenotype in Taiwan
Author(s) -
Lin P.H.,
Li L.,
LinTsai S.J.,
Lin K.T.,
Chen J.M.,
Chu D.C.
Publication year - 2003
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.2003.00494.x
Subject(s) - abo blood group system , exon , genotype , biology , allele , genetics , serology , mutation , microbiology and biotechnology , gene , phenotype , antibody
BACKGROUND: The ABO system includes many variant subgroups. Some of them are difficult to identify serologically, leading to mistyping of blood groups. For example, B el is often typed as O blood group. STUDY DESIGN AND METHODS: DNA sequencing and a molecular approach were explored to accurately determine the genotypes of B el subgroups. Seven B el blood donors and 106 individuals with other blood groups were analyzed serologically and molecularly. RESULTS: The serologic results of these seven B el blood donors showed that their RBCs do not react with anti‐B or anti‐A,B, and their B antigen was detected by adsorption and elution methods. Sequencing results for exons 6 and 7 of ABO genes showed a new B el allele with a C>T substitution at nucleotide position 502 in exon 7 of the ABO gene in all seven cases but not in other blood groups. Consequently, an amplification‐created restriction site protocol was designed to detect the 502C>T genotype in B el subgroup cases. CONCLUSION: A novel 502C>T mutation was found in the B el subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new B el allele that was found is unique in Taiwanese residents.