Alleles responsible for ABO phenotype-genotype discrepancy and alleles in individuals with a weak expression of A or B antigens.
ABO types obtained from evidentiary samples have been used effectively to obtain the initial information leading to the apprehension of culprits in Japanese criminal investigations. A simple ABO genotyping method using multiplex sequence-specific PCR and capillary electrophoresis was developed as a supplement to serological ABO typing. Limitations in predicting a phenotype based on genotype were evaluated using 1134 randomly selected Japanese peripheral blood samples. A concordance rate of 99.82% (1132/1134 samples) was found between genotypes and phenotypes defined as Groups A, B, AB, and O. Sequencing analysis revealed that one discrepant sample contained an O allele having a previously unreported point mutation at the primer binding site in exon 6, and another discrepant sample contained an O allele lacking the guanine deletion at nt 261 (the O301 allele). Therefore, the existence of such alleles must be given some consideration when predicting phenotype based on genotype.
Mizuno
Natsuko
N
National Research Institute of Police Science, 6-3-1, Kashiwanoha Kashiwa, Chiba 277-0082, Japan. mizuno@nrips.go.jp
Ohmori
Takeshi
T
Sekiguchi
Kazumasa
K
Kato
Toru
T
Fujii
Toshinori
T
Fujii
Koji
K
Shiraishi
Tomoko
T
Kasai
Kentaro
K
Sato
Hajime
H
D000017:ABO Blood-Group System / Q000235:genetics* / Q000276:immunology*; D044466:Asian People / Q000235:genetics; D017931:DNA Primers; D019075:Electrophoresis, Capillary; D005091:Exons; D005554:Forensic Medicine / Q000379:methods; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016130:Immunophenotyping; D007564:Japan; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA
D000017:ABO Blood-Group System; D017931:DNA Primers