Alleles responsible for ABO phenotype-genotype discrepancy and alleles in individuals with a weak expression of A or B antigens.

Abstract:

: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.

journal_name

J Forensic Sci

authors

Mizuno N,Ohmori T,Sekiguchi K,Kato T,Fujii T,Fujii K,Shiraishi T,Kasai K,Sato H

keywords:

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

21-8

issue

1

eissn

0022-1198

issn

1556-4029

journal_volume

49

pub_type

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