Journal Published Online: 17 December 2003
Volume 49, Issue 1

Alleles Responsible for ABO Phenotype-Genotype Discrepancy and Alleles in Individuals with a Weak Expression of A or B Antigens

CODEN: JFSCAS

Abstract

ABOtypes 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.

Author Information

Mizuno, N
National Research Institute of Police Science, Chiba, Japan
Ohmori, T
National Research Institute of Police Science, Chiba, Japan
Sekiguchi, K
National Research Institute of Police Science, Chiba, Japan
Kato, T
Forensic Science Laboratory, Fukushima, Japan
Fujii, T
Forensic Science Laboratory, Wakayama, Japan
Fujii, K
National Research Institute of Police Science, Chiba, Japan
Shiraishi, T
National Research Institute of Police Science, Chiba, Japan
Kasai, K
National Research Institute of Police Science, Chiba, Japan
Sato, H
National Research Institute of Police Science, Chiba, Japan
Pages: 8
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Stock #: JFS2003073
ISSN: 0022-1198
DOI: 10.1520/JFS2003073