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.
National Research Institute of Police Science, 6-3-1, Kashiwanoha Kashiwa, Chiba 277-0082, Japan. mizuno@nrips.go.jp
Natsuko
N
Mizuno
Takeshi
T
Ohmori
Kazumasa
K
Sekiguchi
Toru
T
Kato
Toshinori
T
Fujii
Koji
K
Fujii
Tomoko
T
Shiraishi
Kentaro
K
Kasai
Hajime
H
Sato
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