Rapid ABO Genotyping Using Whole Blood without DNA Purification
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Background : ABO genotyping is commonly used in cases of an ABO discrepancy between cell typing and serum typing, as well as in forensic practice for personal identification and paternity testing. We evaluated ABO genotyping via multiplex allele-specific PCR (ASPCR) amplification using whole blood samples without DNA purification. Methods : A four-reaction multiplex ASPCR genotyping assay was designed to detect specific nucleotide sequence differences between the six ABO alleles A101, A102, B101, O01, O02, and cis- AB01. The ABO genotypes of 127 randomly chosen samples were determined using the new multiplex ASPCR method. Results : The genotypes of the 127 samples were found to be A101/A102 (n=1), A102/A102 (n=9), A101/O01 (n=3), A102/O01 (n=12), A102/O02 (n=14), B101/B101 (n=5), B101/O01 (n=18), B101/O02 (n=15), O01/O01 (n=14), O02/O02 (n=8), O01/O02 (n=14) and A102/B101 (n=14), from which phenotypes were calculated to be A (n=39), B (n=38), O (n=36) and AB (n=14). The multiplex ASPCR assay results were compared with the serologically determined blood group phenotypes and genotypes determined by DNA sequencing, and there were no discrepancies. Conclusions : This convenient multiplex ASPCR assay, performed using whole blood samples, provides a supplement to routine serological ABO typing and might also be useful in other genotyping applications.
Abstract
Background : ABO genotyping is commonly used in cases of an ABO discrepancy between cell typing and serum typing, as well as in forensic practice for personal identification and paternity testing. We evaluated ABO genotyping via multiplex allele-specific PCR (ASPCR) amplification using whole blood samples without DNA purification. Methods : A four-reaction multiplex ASPCR genotyping assay was designed to detect specific nucleotide sequence differences between the six ABO alleles A101, A102, B101, O01, O02, and cis- AB01. The ABO genotypes of 127 randomly chosen samples were determined using the new multiplex ASPCR method. Results : The genotypes of the 127 samples were found to be A101/A102 (n=1), A102/A102 (n=9), A101/O01 (n=3), A102/O01 (n=12), A102/O02 (n=14), B101/B101 (n=5), B101/O01 (n=18), B101/O02 (n=15), O01/O01 (n=14), O02/O02 (n=8), O01/O02 (n=14) and A102/B101 (n=14), from which phenotypes were calculated to be A (n=39), B (n=38), O (n=36) and AB (n=14). The multiplex ASPCR assay results were compared with the serologically determined blood group phenotypes and genotypes determined by DNA sequencing, and there were no discrepancies. Conclusions : This convenient multiplex ASPCR assay, performed using whole blood samples, provides a supplement to routine serological ABO typing and might also be useful in other genotyping applications.
참고문헌 (24)
- Yamamoto F, "Molecular genetic basis of the histo-blood group ABO system", Nature, 345, pp.229~233 (1990)
- Yamamoto F, "Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1→2Gal alpha 1→3GalNAc transferase (histo-blood group A transferase) mRNA", J Biol Chem, 265, pp.1146~1151 (1990)
- Chang JG, "Rapid genotyping of ABO blood group", Blood, 79, pp.2176~2177 (1992)
- Lee JC, "ABO genotyping by polymerase chain reaction", J Forensic Sci, 37, pp.1269~1275 (1992)
- Johnson PH, "Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis", Hum Mol Genet, 1, pp.341~344 (1992)
- Akane A, "ABO genotyping following a single PCR amplification", J Forensic Sci, 41, pp.272~274 (1996)
- Gassner C, "ABO glycosyltransferase genotyping by polymerase chain reaction using sequence-specific primers", Blood, 88, pp.1852~1856 (1996)
- 조덕, "대립유전자특이중합효소연쇄반응법에 의한 간편한 ABO 유전형 검사", The Korean Journal of Laboratory Medicine, 25(2), pp.123~128 (2005), 대한진단검사의학회
- Li CX, "Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening", Hum Mutat, 29, pp.306~314 (2008)
- Sanchaisuriya K, "Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak", Clin Chim Acta, 343, pp.129~134 (2004)
- Angelini A, "Identification of three genetic risk factors for venous thrombosis using a multiplex allele-specific PCR assay: comparison of conventional and new alternative methods for the preparation of DNA from clinical samples", J Thromb Thrombolysis, 16, pp.189~193 (2003)
- Yip SP, "Single-tube multiplex PCR-SSCP analysis distinguishes 7 common ABO alleles and readily identifies new alleles", Blood, 95, pp.1487~1492 (2000)
- Muddiman DC, "Precise mass measurement of a double-stranded 500 base-pair (309 kDa) polymerase chain reaction product by negative ion electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry", Rapid Commun Mass Spectrom, 13, pp.1201~1204 (1999)
- Ye S, "An efficient procedure for genotyping single nucleotide polymorphisms", Nucleic Acids Res, 29, pp.E88~ (2001)
- 송상훈, "한국인에서 8가지 ABO 대립유전자의 빈도 분석", The Korean Journal of Laboratory Medicine, 26(5), pp.374~379 (2006), 대한진단검사의학회
- Cho D, "The serological and genetic basis of the cis-AB blood group in Korea", Vox Sang, 87, pp.41~43 (2004)
- Yang YG, "A novel buffer system, Any-Direct, can improve polymerase chain reaction from whole blood without DNA isolation", Clin Chim Acta, 380, pp.112~117 (2007)
- Yang YG, "A simple and rapid gene amplification from Arabidopsis leaves using AnyDirect system", J Biochem Mol Biol, 40, pp.444~447 (2007)
- YANG, YOUNG GEUN, "Direct Detection of Shigella flexneri and Salmonella typhimurium in HumanFeces by Real-Time PCR", Journal of Microbiology and Biotechnology, 17(10), pp.1616~1621 (2007), 한국미생물·생명공학회
- Chou Q, "Prevention of pre-PCR mis-priming and primer dimerization improves low-copynumber amplifications", Nucleic Acids Res, 11, pp.1717~1723 (1992)
- Mercier B, "Direct PCR from whole blood, without DNA extraction", Nucleic Acids Res, 18, pp.5908~ (1990)
- Ohhara M, "Direct PCR of whole blood and hair shafts by microwave treatment", Biotechniques, 17, pp.726~728 (1994)
- Panaccio M, "FoLT PCR: a simple PCR protocol for amplifying DNA directly from whole blood", Biotechniques, 14, pp.238~243 (1993)
- Nishimura N, "Direct polymerase chain reaction from whole blood without DNA isolation", Ann Clin Biochem, 37, pp.674~680 (2000)