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Volumn 22, Issue 2, 2008, Pages 103-109

Detection of four β-thalassemia point mutations in Iranians using a PCR-ELISA genotyping system

Author keywords

Thalassemia; ARMS; PCR ELISA; Point mutations

Indexed keywords

BETA GLOBIN; DNA; GENE PRODUCT;

EID: 40149103110     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2007.10.001     Document Type: Article
Times cited : (12)

References (37)
  • 1
    • 0022372670 scopus 로고
    • Enzymatic detection of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia
    • Saiki R.K., Scharf S., Faloona F., Mullis K.B., Horn G.T., and Erlich H.A. Enzymatic detection of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anaemia. Science 230 (1985) 1350-1354
    • (1985) Science , vol.230 , pp. 1350-1354
    • Saiki, R.K.1    Scharf, S.2    Faloona, F.3    Mullis, K.B.4    Horn, G.T.5    Erlich, H.A.6
  • 2
    • 0001430252 scopus 로고
    • DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory
    • Fischer S.G., and Lerman L.S. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci 80 (1983) 1579-1583
    • (1983) Proc Natl Acad Sci , vol.80 , pp. 1579-1583
    • Fischer, S.G.1    Lerman, L.S.2
  • 4
    • 0023022499 scopus 로고
    • Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes
    • Saiki R.K., Bugawan T.L., Horn G.T., Mullis K.B., and Erlich H.A. Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes. Nature 324 (1986) 163-166
    • (1986) Nature , vol.324 , pp. 163-166
    • Saiki, R.K.1    Bugawan, T.L.2    Horn, G.T.3    Mullis, K.B.4    Erlich, H.A.5
  • 5
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M., Iwahana H., Kanazawa H., Hayashi K., and Seriya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci 86 (1989) 2766-2770
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Seriya, T.5
  • 7
    • 0024792254 scopus 로고
    • A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria
    • Sommer S.S., Cassady J.D., Sobell J.L., and Bottema C.D.K. A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clin Proc 64 (1989) 1361-1372
    • (1989) Mayo Clin Proc , vol.64 , pp. 1361-1372
    • Sommer, S.S.1    Cassady, J.D.2    Sobell, J.L.3    Bottema, C.D.K.4
  • 8
    • 0025650533 scopus 로고
    • A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E
    • Syvanen A.-C., Aalto-Setala K., Harju L., Kontula K., and Soderlund H. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 8 (1990) 684-692
    • (1990) Genomics , vol.8 , pp. 684-692
    • Syvanen, A.-C.1    Aalto-Setala, K.2    Harju, L.3    Kontula, K.4    Soderlund, H.5
  • 9
    • 17044460164 scopus 로고    scopus 로고
    • A new approach to SNP genotyping with fluorescently labeled mononucleotides
    • Takatsu K., Yokomaku T., Kurata S., and Kanagawa T. A new approach to SNP genotyping with fluorescently labeled mononucleotides. Nucleic Acids Res 32 (2004) 7:e60
    • (2004) Nucleic Acids Res , vol.32
    • Takatsu, K.1    Yokomaku, T.2    Kurata, S.3    Kanagawa, T.4
  • 10
    • 0024297824 scopus 로고
    • A ligase-mediated gene detection technique
    • Landegren U., Kaiser R., Sanders J., and Hood L. A ligase-mediated gene detection technique. Science 241 (1988) 1077-1080
    • (1988) Science , vol.241 , pp. 1077-1080
    • Landegren, U.1    Kaiser, R.2    Sanders, J.3    Hood, L.4
  • 11
    • 28544431617 scopus 로고    scopus 로고
    • A colorimetric method for point mutation detection using high-fidelity DNA ligase
    • Xia Chu J.L., Liu Y., Jiang J.H., He Z., Zhang Z., and Ru-Qin Yu J.S. A colorimetric method for point mutation detection using high-fidelity DNA ligase. Nucleic Acids Res 33 19 (2005) e168
    • (2005) Nucleic Acids Res , vol.33 , Issue.19
    • Xia Chu, J.L.1    Liu, Y.2    Jiang, J.H.3    He, Z.4    Zhang, Z.5    Ru-Qin Yu, J.S.6
  • 12
    • 2342520656 scopus 로고    scopus 로고
    • Locked nucleic acid (LNA) single nucleotide polymorphism (SNP) genotype analysis and validation using real-time PCR
    • Johnson M.P., Haupt L.M., and Grifiths L.R. Locked nucleic acid (LNA) single nucleotide polymorphism (SNP) genotype analysis and validation using real-time PCR. Nucleic Acids Res 32 6 (2004) e55
    • (2004) Nucleic Acids Res , vol.32 , Issue.6
    • Johnson, M.P.1    Haupt, L.M.2    Grifiths, L.R.3
  • 13
    • 17044442211 scopus 로고    scopus 로고
    • Real-time PCR genotyping using displacing probes
    • Cheng J., Zhang Y., and Li Q. Real-time PCR genotyping using displacing probes. Nucleic Acids Res 32 7 (2004) e61
    • (2004) Nucleic Acids Res , vol.32 , Issue.7
    • Cheng, J.1    Zhang, Y.2    Li, Q.3
  • 14
    • 33644851549 scopus 로고    scopus 로고
    • Genotyping pooled DNA using 100 K SNP microarrays: a step towards genomewide association scans
    • Meaburn E., Butcher L.M., Schalkwyk L.C., and Plomin R. Genotyping pooled DNA using 100 K SNP microarrays: a step towards genomewide association scans. Nucleic Acids Res 34 4 (2006) e28
    • (2006) Nucleic Acids Res , vol.34 , Issue.4
    • Meaburn, E.1    Butcher, L.M.2    Schalkwyk, L.C.3    Plomin, R.4
  • 15
    • 2442671820 scopus 로고    scopus 로고
    • Allelic imbalance analysis by high-density single nucleotide polymorphic allele (SNP) array with whole genome amplified DNA
    • Wong K.K., Tsang Y.T.-M., Shen J., Cheng R.S., Chang Y.-M., Man T.K., et al. Allelic imbalance analysis by high-density single nucleotide polymorphic allele (SNP) array with whole genome amplified DNA. Nucleic Acids Res 32 9 (2004) e69
    • (2004) Nucleic Acids Res , vol.32 , Issue.9
    • Wong, K.K.1    Tsang, Y.T.-M.2    Shen, J.3    Cheng, R.S.4    Chang, Y.-M.5    Man, T.K.6
  • 16
    • 0018787038 scopus 로고
    • Hybridization of synthetic oligodeoxyribonucleotides to DNA: the effect of single base pair mismatch
    • Wallace R.B., Shaffer J., Murphy R.F., Bonner J., Hirose T., and Itakura K. Hybridization of synthetic oligodeoxyribonucleotides to DNA: the effect of single base pair mismatch. Nucleic Acids Res 6 (1979) 3543-3557
    • (1979) Nucleic Acids Res , vol.6 , pp. 3543-3557
    • Wallace, R.B.1    Shaffer, J.2    Murphy, R.F.3    Bonner, J.4    Hirose, T.5    Itakura, K.6
  • 17
    • 0023088933 scopus 로고
    • Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs
    • Ikuta S., Takagi K., Wallace R.B., and takura K.I. Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs. Nucleic Acids Res 15 (1987) 797-811
    • (1987) Nucleic Acids Res , vol.15 , pp. 797-811
    • Ikuta, S.1    Takagi, K.2    Wallace, R.B.3    takura, K.I.4
  • 18
    • 2442590687 scopus 로고    scopus 로고
    • Mismatching base-pair dependence of the kinetics of DNA-DNA hybridization studied by surface plasmon fluorescence spectroscopy
    • Tawa K., and Knoll W. Mismatching base-pair dependence of the kinetics of DNA-DNA hybridization studied by surface plasmon fluorescence spectroscopy. Nucleic Acids Res 32 (2004) 2372-2377
    • (2004) Nucleic Acids Res , vol.32 , pp. 2372-2377
    • Tawa, K.1    Knoll, W.2
  • 19
    • 0001442557 scopus 로고
    • Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes
    • Saiki R.K., Walsh P.S., Levenson C.H., and Erlich H.A. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci 86 (1989) 6230-6234
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 6230-6234
    • Saiki, R.K.1    Walsh, P.S.2    Levenson, C.H.3    Erlich, H.A.4
  • 20
    • 0026744374 scopus 로고
    • Oligonucleotide genotyping of HLA polymorphism on microtitre plates
    • Cros P., Allibert P., Mandrand B., Tiercy J.-M., and Mach B. Oligonucleotide genotyping of HLA polymorphism on microtitre plates. Lancet 340 (1992) 870-873
    • (1992) Lancet , vol.340 , pp. 870-873
    • Cros, P.1    Allibert, P.2    Mandrand, B.3    Tiercy, J.-M.4    Mach, B.5
  • 21
    • 0027454281 scopus 로고
    • HLA class II typing in a microtitre plate format using digoxigenin-labeled amplified DNA and biotin-labeled oligonucleotide probes
    • Nevinny-Stickel C., and Albert E.D. HLA class II typing in a microtitre plate format using digoxigenin-labeled amplified DNA and biotin-labeled oligonucleotide probes. Eur J Immunogenet 20 (1993) 419-427
    • (1993) Eur J Immunogenet , vol.20 , pp. 419-427
    • Nevinny-Stickel, C.1    Albert, E.D.2
  • 22
    • 0034852845 scopus 로고    scopus 로고
    • The beta-thalassemia mutation spectrum in the Iranian population
    • Najmabadi H., Karimi-Nejad R., Sahebjam S., and Pourfarzad F. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin 23 (2001) 285-296
    • (2001) Hemoglobin , vol.23 , pp. 285-296
    • Najmabadi, H.1    Karimi-Nejad, R.2    Sahebjam, S.3    Pourfarzad, F.4
  • 23
    • 0034194144 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis of thalassemia in Taiwan
    • Chern S.R., and Chen C.P. Molecular prenatal diagnosis of thalassemia in Taiwan. Int J Gynaecol Obstet 69 (2000) 103-106
    • (2000) Int J Gynaecol Obstet , vol.69 , pp. 103-106
    • Chern, S.R.1    Chen, C.P.2
  • 24
    • 40149096746 scopus 로고    scopus 로고
    • Molekulare charakterisierung der b-thalassämie bei probanden deutscher herkunft Berlin, Humboldt-univ
    • Shwarz M.C. Molekulare charakterisierung der b-thalassämie bei probanden deutscher herkunft Berlin, Humboldt-univ. Medizinische Fakultät Diss 10 (1998) 26-40
    • (1998) Medizinische Fakultät Diss , vol.10 , pp. 26-40
    • Shwarz, M.C.1
  • 27
    • 0030974354 scopus 로고    scopus 로고
    • Detection of coxiella burnetii in cow's milk by PCR-enzyme linked immunosorbent assay combined with a novel sample preparation method
    • Muramatsu Y., Yanase T., Okabayashi T., Ueno H., and Morita C. Detection of coxiella burnetii in cow's milk by PCR-enzyme linked immunosorbent assay combined with a novel sample preparation method. Appl Environ Microbiol 63 (1997) 2142-2146
    • (1997) Appl Environ Microbiol , vol.63 , pp. 2142-2146
    • Muramatsu, Y.1    Yanase, T.2    Okabayashi, T.3    Ueno, H.4    Morita, C.5
  • 29
    • 0032856146 scopus 로고    scopus 로고
    • Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system
    • Knight C.J., McGuire W., Kortok M.M., and Kwiatkowski D. Accuracy of genotyping of single-nucleotide polymorphisms by PCR-ELISA allele-specific oligonucleotide hybridization typing and by amplification refractory mutation system. Clin Chem 45 (1999) 1860-1863
    • (1999) Clin Chem , vol.45 , pp. 1860-1863
    • Knight, C.J.1    McGuire, W.2    Kortok, M.M.3    Kwiatkowski, D.4
  • 31
    • 0039452718 scopus 로고    scopus 로고
    • Different approches to molecular scanning of point mutations in genetic diseases
    • Ferrari M., Paola C., and Cremonesi L. Different approches to molecular scanning of point mutations in genetic diseases. J Pure Appl Chem 68 (1996) 1913-1918
    • (1996) J Pure Appl Chem , vol.68 , pp. 1913-1918
    • Ferrari, M.1    Paola, C.2    Cremonesi, L.3
  • 32
    • 0028863891 scopus 로고
    • Rapid detection of rifampicin resistance in sputum and biopsy specimens from tuberculosis patients by PCR and line probe assay
    • De Beenhouwer H., Lhiang Z., Jannes G., Mijs W., Machtelinckx L., Rossau R., et al. Rapid detection of rifampicin resistance in sputum and biopsy specimens from tuberculosis patients by PCR and line probe assay. Tuber Lung Dis 76 (1995) 425-430
    • (1995) Tuber Lung Dis , vol.76 , pp. 425-430
    • De Beenhouwer, H.1    Lhiang, Z.2    Jannes, G.3    Mijs, W.4    Machtelinckx, L.5    Rossau, R.6
  • 33
    • 0031003128 scopus 로고    scopus 로고
    • Evaluation of a line probe assay kit for characterization of rpoB mutations in rifampin-resistant Mycobacterium tuberculosis isolates from New York City
    • Cooksey R.C., Morlock G.P., Glickman S., and Crawford J.T. Evaluation of a line probe assay kit for characterization of rpoB mutations in rifampin-resistant Mycobacterium tuberculosis isolates from New York City. J Clin Microbiol 35 (1997) 1281-1283
    • (1997) J Clin Microbiol , vol.35 , pp. 1281-1283
    • Cooksey, R.C.1    Morlock, G.P.2    Glickman, S.3    Crawford, J.T.4
  • 34
    • 0035022538 scopus 로고    scopus 로고
    • Mutations in the rpoB gene of rifampin-resistant mycobacterium tuberculosis isolates in Spain and their rapid detection by PCR-enzyme linked immunosorbent assay
    • Garcia L., Alonso-sanz M., Rebollo M.J., Tercero J., and Chaves F. Mutations in the rpoB gene of rifampin-resistant mycobacterium tuberculosis isolates in Spain and their rapid detection by PCR-enzyme linked immunosorbent assay. J Clin Microbiol 39 (2001) 1813-1818
    • (2001) J Clin Microbiol , vol.39 , pp. 1813-1818
    • Garcia, L.1    Alonso-sanz, M.2    Rebollo, M.J.3    Tercero, J.4    Chaves, F.5
  • 36
    • 0036797482 scopus 로고    scopus 로고
    • Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing
    • Najmabadi H., Pourfathollah A.A., Neishabury M., and Sahebjam F. Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica 87 (2002) 1113-1114
    • (2002) Haematologica , vol.87 , pp. 1113-1114
    • Najmabadi, H.1    Pourfathollah, A.A.2    Neishabury, M.3    Sahebjam, F.4
  • 37
    • 0028172175 scopus 로고
    • Beta-thalassemia in Iran; a high incidence of the nonsense codon 39 mutation on the island of Queshm
    • Noori-Daloii M.R., Moazami N., Izadyar M., Farhangi S., Beyrami-Jamal F., Atalay A., et al. Beta-thalassemia in Iran; a high incidence of the nonsense codon 39 mutation on the island of Queshm. Hemoglobin 18 (1994) 449-453
    • (1994) Hemoglobin , vol.18 , pp. 449-453
    • Noori-Daloii, M.R.1    Moazami, N.2    Izadyar, M.3    Farhangi, S.4    Beyrami-Jamal, F.5    Atalay, A.6


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