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Genotyping of ABO blood groups by PCR and RFLP analysis of 5 nucleotide positions

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The genotyping of ABO blood groups was performed using the polymerase chain reaction (PCR) method. The 4 DNA fragments containing the nucleotide position 261, 526, 703 and 796 of cDNA from A-transferase were amplified by PCR, and the amplified DNA subjected to restriction fragment length polymorphism (RFLP) analysis. The different nucleotide at position 803 was clearly distinguished by electrophoresis of the PCR products amplified with allele-specific primers. By analyzing the electrophoresis patterns, ABO genotyping was conclusively accomplished. The frequencies of ABO genotypes found in Japanese blood donors with A and B phenotypes were as follows: in the phenotype A group, AA =19.8 % and AO = 80.2%; and in the phenotype B group, BB =12.8% and BO=87.2%.


Die Bestimmung der ABO-Blutgruppen wurde mittels Polymerase-Kettenreaktion (PCR) durchgeführt. Die vier DNA-Fragmente, die Nukleotidpositionen 261, 526, 703 und 796 von der cDNA der A-Transferase enthielten, wurden mittels PCR amplifiziert. Die amplifizierte DNA wurde einer Restriktionsfragmentl ängen-Analyse (RFLP) unterzogen. Nach Amplifikation mit allelspezifischen Primern konnte der Nukleotidunterschied an Position 803 durch Elektrophorese der PCR-Produkte klar getrennt werden. Die Bestimmung der ABO-Genotypen war durch die Analyse der eletrophoretischen Muster eindeutig durchführbar. Folgende Frequenzen der ABO-Genotypen von japanischen Blutspendern wurden für die Phänotypen A und B gefunden: In der Phänotypgruppe A, AA =19,8% und AO=80,2%, Phänotypgruppe B, BB=12,8% und BO= 87,2%.

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  1. Yamamoto F, Marken J, Tsuji T, White T, Clausen H, Hakomori S (1990) Cloning and characterization of DNA complementary to human UDP-Ga1NAc:Fucα1-2Galα1-3Ga1NAc transferase (histo-blood group A transferase) mRNA. J Biol Chem 265: 1146–1151

    PubMed  Google Scholar 

  2. Yamamoto F, Clausen H, White T, Marken J, Hakomori S (1990) Molecular genetic basis of the histo-blood group ABO system. Nature 345: 229–233

    Article  PubMed  Google Scholar 

  3. Yamamoto F, Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. J Biol Chem 165: 19257–19262

    Google Scholar 

  4. Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, USA

    Google Scholar 

  5. Saiki RK, Scharf SJ, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350–1354

    PubMed  Google Scholar 

  6. Kaneshige T, Takagi K, Nakamura S, Hirasawa T, Sada M, Uchida K (1992) Genetic analysis using fingernail DNA. Nucleic Acids Res 20: 5489–5490

    PubMed  Google Scholar 

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Fukumori, Y., Ohnoki, S., Shibata, H. et al. Genotyping of ABO blood groups by PCR and RFLP analysis of 5 nucleotide positions. Int J Leg Med 107, 179–182 (1995).

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