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    Volume 49, Issue 1 (January 2004)

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

    (Received 2 March 2003; accepted 6 September 2003)

    Published Online: December

    CODEN: JFSOAD

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    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:

    Sato, H
    National Research Institute of Police Science, Chiba,

    Fujii, K
    National Research Institute of Police Science, Chiba,

    Kasai, K
    National Research Institute of Police Science, Chiba,

    Sekiguchi, K
    National Research Institute of Police Science, Chiba,

    Mizuno, N
    National Research Institute of Police Science, Chiba,

    Fujii, T
    Forensic Science Laboratory, Wakayama,

    Kato, T
    Forensic Science Laboratory, Fukushima,

    Ohmori, T
    National Research Institute of Police Science, Chiba,

    Shiraishi, T
    National Research Institute of Police Science, Chiba,


    Stock #: JFS2003073

    ISSN: 0022-1198

    DOI: 10.1520/JFS2003073

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    Title Alleles Responsible for ABO Phenotype-Genotype Discrepancy and Alleles in Individuals with a Weak Expression of A or B Antigens
    Symposium , 0000-00-00
    Committee E30