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

Journal of Forensic Sciences

Volumn 49, Issue 1, 2004, Pages 21-28

  Mizuno, Natsuko ^a,b,e   Ohmori, Takeshi ^a,b   Sekiguchi, Kazumasa ^a,b   Kato, Toru ^c   Fujii, Toshinori ^d   Fujii, Koji ^a,b   Shiraishi, Tomoko ^a,b   Kasai, Kentaro ^a,b   Sato, Hajime ^a,b  

^a NATIONAL RESEARCH INSTITUTE OF POLICE SCIENCE   (Japan)

^b Ishikawa Prefectural Police Headquarters   (Japan)

^c Forensic Science Laboratory   (Japan)

^d Forensic Science Laboratory   (Japan)

^e Forensic Science Laboratory   (Japan)

Author keywords

A2 phenotype; ABO; Bm phenotype; Capillary electrophoresis; DNA typing; Forensic science; Genotype phenotype discrepancy; Sequence specific polymerase chain reaction

Indexed keywords

BLOOD GROUP A ANTIGEN; BLOOD GROUP B ANTIGEN; GUANINE; PRIMER DNA;

A2 PHENOTYPE; ALLELE; ANTIGEN EXPRESSION; ASIAN; BINDING SITE; BLOOD GROUP A; BLOOD GROUP AB; BLOOD GROUP ABO SYSTEM; BLOOD GROUP B; BLOOD GROUP O; BLOOD GROUP TYPING; BM PHENOTYPE; CAPILLARY ELECTROPHORESIS; CONFERENCE PAPER; CRIME; DNA BINDING; DNA FINGERPRINTING; EXON; FORENSIC SCIENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GENOTYPE PHENOTYPE DISCREPANCY; HUMAN; JAPANESE; NORMAL HUMAN; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE SPECIFIC POLYMERASE CHAIN REACTION; SEROTYPING;

EID: 0347651826     PISSN: 00221198     EISSN: None     Source Type: Journal    
DOI: 10.1520/jfs2003073     Document Type: Conference Paper

References (31)

1. Ohmori T, Toyoda H, Toida T, Imanari T, Sato H. Comparison of oligosaccharides derived from salivary mucin of Japanese secretor and non-secretor individuals of blood group type-A. Glycoconj J 2001;18(8):635-40.
2. Lee JC, Chang JG. ABO genotyping by polymerase chain reaction. J Forensic Sci 1992;37(5):1269-75.
3. O'Keefe DS, Dobrovic A. A rapid and reliable PCR method for genotyping the ABO blood group. Hum Mutat 1993;2(1):67-70
4. 2. Vox Sang 1994;67(2):210-5.
5. Akane A, Yoshimura S, Yoshida M, Okii Y, Watabiki T, Matsubara K, et al. ABO genotyping following a single PCR amplification. J Forensic Sci 1996;41(2):272-4.
6. Ladd C, Bourke MT, Scherczinger CA, Pagliaro EM, Gaensslen RE, Lee HC. A PCR-based strategy for ABO genotype determination. J Forensic Sci 1996;41(1):134-7.
7. Herrin G, Jr. A simplified amplification procedure for two regions of the glycosyl transferase (ABO blood group) gene. J Forensic Sci 1996;41(1):138-41.
8. Ogasawara K, Bannai M, Saitou N, Yabe R, Nakata K, Takenaka M, et al. Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes. Hum Genet 1996;97(6):777-83.
9. Ogasawara K, Yabe R, Uchikawa M, Saitou N, Bannai M, Nakata K, et al. Molecular genetic analysis of variant phenotypes of the ABO blood group system. Blood 1996;88(7):2732-7.
10. Ogasawara K, Yabe R, Uchikawa M, Bannai M, Nakata K, Takenaka M, et al. Different alleles cause an imbalance in A2 and A2B phenotypes of the ABO blood group. Vox Sang 1998;74(4):242-7.
11. Yip SP. Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO alleles and readily identifies new alleles. Blood 2000;95(4):1487-92.
12. Ugozzoli L, Wallace RB. Application of an allele-specific polymerase chain reaction to the direct determination of ABO blood group genotypes. Genomics 1992;12(4):670-4.
13. Crouse C, Vincek V. Identification of ABO alleles on forensic-type specimens using rapid-ABO genotyping. Biotechniques 1995;18(3):478-83.
14. Gassner C, Schmarda A, Nussbaumer W, Schonitzer D. ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers. Blood 1996;88(5):1852-6.
15. Watanabe G, Umetsu K, Yuasa I, Suzuki T. Amplified product length polymorphism (APLP): a novel strategy for genotyping the ABO blood group. Hum Genet 1997;99(1):34-7.
16. Pearson SL, Hessner MJ. A(1,2)BO(1,2) genotyping by multiplexed allele-specific PCR. Br J Haematol 1998;100(1):229-34.
17. Watanabe G, Umetsu K, Osawa M. [Application of the PCR-APLP method to determine ABO genotypes in forensic samples]. Nippon Hoigaku Zasshi 2000;54(2):219-26.
18. Kessler HH, Muhlbauer G, Stelzl E, Daghofer E, Santner BI, Marth E. Fully automated nucleic acid extraction: MagNA Pure LC. Clin Chem 2001;47(6):1124-6.
19. Ogasawara K, Yabe R, Uchikawa M, Nakata K, Watanabe J, Takahashi Y, et al. Recombination and gene conversion-like events may contribute to ABO gene diversity causing various phenotypes. Immunogenetics 2001;53(3):190-9.
20. Yamamoto F. Molecular genetics of ABO. Vox Sang 2000;78(Suppl 2): 91-103.
21. Watanabe G, Umetsu K, Sato M, Suzuki T. [Three cases of recombinated gene in the ABO blood group system.] Nippon Hoigaku Zasshi 1997;51(3):205-10.
22. Watanabe G, Umetsu K, Yuasa I, Sato M, Sakabe M, Naito E, et al. A novel technique for detecting single nucleotide polymorphisms by analyzing consumed allele-specific primers. Electrophoresis 2001;22(3):418-20.
23. Brownstein MJ, Carpten JD, Smith JR. Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques 1996;20(6):1004-6, 8-10.
24. Raymond M, Rousset F. GenePop: a population genetic software package availabe at htp://ftp.cefe.cnrs-mop.fr/genepop. 2001.
25. Okubo Y. Ketsuekigata to Yuketsukensa. 2nd rev. ed. Tokyo: Ishiyaku Publishers, Inc., 1997.
26. Olsson ML, Chester MA. A rapid and simple ABO genotype screening method using a novel B/O2 versus A/O2 discriminating nucleotide substitution at the ABO locus. Vox Sang 1995;69(3):242-7
27. Nishimukai H, Fukumori Y, Okiura T, Yuasa I, Shinomiya T, Ohnoki S, et al. Genotyping of the ABO blood group system: analysis of nucleotide position 802 by PCR-RFLP and the distribution of ABO genotypes in a German population. Int J Legal Med 1996;109(2):90-3.
28. Olsson ML, Irshaid NM, Hosseini-Maaf B, Hellberg A, Moulds MK, Sareneva H, et al. Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. Blood 2001;98(5):1585-93.
29. Yamamoto F, McNeill PD, Hakomori S. Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal. Biochem Biophys Res Commun 1992;187(1):366-74.
30. Yamamoto F, McNeill PD, Yamamoto M, Hakomori S, Harris T, Judd WJ, et al. Molecular genetic analysis of the ABO blood group system: 1. Weak subgroups: A3 and B3 alleles. Vox Sang 1993;64(2):116-9.
31. Yip SP. Sequence variation at the human ABO locus. Ann Hum Genet 2002;66(Pt 1):1-27.