ISSN: 0022-1198
CODEN: JFSCA
Published Online: 17 December 2003
Page Count: 8

Alleles Responsible for ABO Phenotype-Genotype Discrepancy and Alleles in Individuals with a Weak Expression of A or B Antigens
Sato, H
National Research Institute of Police Science,

Fujii, K
National Research Institute of Police Science,

Kasai, K
National Research Institute of Police Science,

Sekiguchi, K
National Research Institute of Police Science,

Mizuno, N
National Research Institute of Police Science,

Fujii, T
Forensic Science Laboratory,

Kato, T
Forensic Science Laboratory,

Ohmori, T
National Research Institute of Police Science,

Shiraishi, T
National Research Institute of Police Science,

(Received 2 March 2003; accepted 6 September 2003)

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.

Keywords:
forensic science, DNA typing, ABO, genotype-phenotype discrepancy, capillary electrophoresis, sequence-specific polymerase, chain reaction, A2 phenotype, Bm phenotype

Paper ID: JFS2003073
DOI: 10.1520/JFS2003073
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