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A rapid and reliable PCR method for genotyping the ABO blood group. II: A 2 and O 2 alleles
Author(s) -
O'Keefe Denise S.,
Dobrovic Alexander
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)8:4<358::aid-humu9>3.0.co;2-3
Subject(s) - genotyping , abo blood group system , allele , biology , locus (genetics) , typing , genetics , genotype , polymerase chain reaction , allele frequency , serology , gene , antibody
PCR permits direct genotyping of individuals at the ABO locus. Several methods have been reported for genotyping ABO that rely on differentiating the A, B, and O alleles at specific base substitutions. However, the O allele as defined by serology comprises at least two alleles (O 1 and O 2 ) at the molecular level, and most current ABO genotyping methods only take into account the O 1 allele. Determining the presence of the O 2 allele is critical, as this not‐infrequent allele would be mistyped as an A or a B allele by standard PCR typing methods. Furthermore, none of the methods to date distinguish between the A 1 and A 2 alleles, even though 10% of all white persons are blood group A 2 . We have developed a method for genotyping the ABO locus that takes the O 2 and A 2 alleles into account. Typing for A 2 and O 2 by diagnostic restriction enzyme digestion is a sensitive, nonradioactive assay that provides a convenient method useful for forensic and paternity testing and for clarifying anomalous serological results. © 1996 Wiley‐Liss, Inc.