메뉴 건너뛰기




Volumn 14, Issue 6, 2010, Pages 851-856

Rapid identification of common β-thalassemia mutations in the Chinese population using duplex or triplex amplicon genotyping by high-resolution melting analysis

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ALLELE; AMPLICON; ARTICLE; BETA THALASSEMIA; CHINESE; CONTROLLED STUDY; GENE MUTATION; GENETIC IDENTIFICATION; GENOTYPE; HETEROZYGOTE; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; SCREENING TEST;

EID: 78650402348     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0048     Document Type: Article
Times cited : (14)

References (29)
  • 1
    • 0025190260 scopus 로고
    • Identification of the multiple β-thalassemia mutations by denaturing gradient gel electrophoresis
    • Cai SP, Kan Y (1990) Identification of the multiple β-thalassemia mutations by denaturing gradient gel electrophoresis. J Clin Invest 85:550-553.
    • (1990) J Clin Invest , vol.85 , pp. 550-553
    • Cai, S.P.1    Kan, Y.2
  • 2
    • 0028158097 scopus 로고
    • Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks
    • Cai SP, Wall J, Kan YW, et al. (1994) Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks. Hum Mutat 3:59-63.
    • (1994) Hum Mutat , vol.3 , pp. 59-63
    • Cai, S.P.1    Wall, J.2    Kan, Y.W.3
  • 3
    • 0023914524 scopus 로고
    • A simple approach to prenatal diagnosis of β-thalassemia in a geographic area where multiple mutations occur
    • Cai SP, Zhang JZ, Huang DH, et al. (1988) A simple approach to prenatal diagnosis of β-thalassemia in a geographic area where multiple mutations occur. Blood 71:1357-1360.
    • (1988) Blood , vol.71 , pp. 1357-1360
    • Cai, S.P.1    Zhang, J.Z.2    Huang, D.H.3
  • 4
    • 0023621964 scopus 로고
    • Distribution of β-thalassemia mutations in south China and their association with haplotypes
    • Chan V, Chan TK, Chahab FF, et al. (1987) Distribution of β-thalassemia mutations in south China and their association with haplotypes. Am J Hum Genet 41:678-685.
    • (1987) Am J Hum Genet , vol.41 , pp. 678-685
    • Chan, V.1    Chan, T.K.2    Chahab, F.F.3
  • 5
    • 0029334707 scopus 로고
    • Molecular diagnosis of thalassemia in Taiwan
    • Chang JG, Liu HJ (1995) Molecular diagnosis of thalassemia in Taiwan. Kaohsiung J Med Sci 11:371-378.
    • (1995) Kaohsiung J Med Sci , vol.11 , pp. 371-378
    • Chang, J.G.1    Liu, H.J.2
  • 6
    • 34547572421 scopus 로고    scopus 로고
    • A novel mutation of -73(A-NT) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia
    • Chen XW, Mo QH, Li Q, et al. (2007) A novel mutation of -73(A-NT) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. Ann Hematol 86:653-657.
    • (2007) Ann Hematol , vol.86 , pp. 653-657
    • Chen, X.W.1    Mo, Q.H.2    Li, Q.3
  • 7
    • 0025124636 scopus 로고
    • Detection of β-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens
    • Huang SZ, Zhou XD, Zhu H, et al. (1990) Detection of β-thalassemia mutations in the Chinese using amplified DNA from dried blood specimens. Hum Genet 84:129-131.
    • (1990) Hum Genet , vol.84 , pp. 129-131
    • Huang, S.Z.1    Zhou, X.D.2    Zhu, H.3
  • 8
    • 0242267556 scopus 로고    scopus 로고
    • A rare beta-thalassaemia mutation (C-T) at position-90 of the beta-globin gene discovered in a Chinese family
    • Jia S, Lao X, Li W, et al. (2003) A rare beta-thalassaemia mutation (C-T) at position-90 of the beta-globin gene discovered in a Chinese family. Haematologica 88:1191-1193.
    • (2003) Haematologica , vol.88 , pp. 1191-1193
    • Jia, S.1    Lao, X.2    Li, W.3
  • 9
    • 0023790820 scopus 로고
    • Molecular basis and prenatal diagnosis of β-thalassemia
    • Kazazian HH Jr., Boehm CD (1988) Molecular basis and prenatal diagnosis of β-thalassemia. Blood 72:1107-1116.
    • (1988) Blood , vol.72 , pp. 1107-1116
    • Kazazian Jr., H.H.1    Boehm, C.D.2
  • 10
    • 0023006166 scopus 로고
    • The spectrum of β-thalassemia genes in China and South-east Asia
    • Kazazian HH Jr., Dowling CE, Waber PG, et al. (1986) The spectrum of β-thalassemia genes in China and South-east Asia. Blood 68:964-966.
    • (1986) Blood , vol.68 , pp. 964-966
    • Kazazian Jr., H.H.1    Dowling, C.E.2    Waber, P.G.3
  • 11
    • 0031886857 scopus 로고    scopus 로고
    • Molecular study and prenatal diagnosis of alpha-and beta-thalassemias in Chinese
    • Ko TM, Xu X (1998) Molecular study and prenatal diagnosis of alpha-and beta-thalassemias in Chinese. J Formos Med Assoc 97:5-15.
    • (1998) J Formos Med Assoc , vol.97 , pp. 5-15
    • Ko, T.M.1    Xu, X.2
  • 12
    • 43449120116 scopus 로고    scopus 로고
    • Rapid genotyping of known mutations and polymorphisms in b-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes
    • Li Q, Li LY, Huang SW, et al. (2008) Rapid genotyping of known mutations and polymorphisms in b-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes. Clin Biochem 41:681-687.
    • (2008) Clin Biochem , vol.41 , pp. 681-687
    • Li, Q.1    Li, L.Y.2    Huang, S.W.3
  • 13
    • 32944477875 scopus 로고    scopus 로고
    • Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes
    • Liew M, Nelson L, Margraf R, et al. (2006) Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes. J Mol Diagn 8:97-104.
    • (2006) J Mol Diagn , vol.8 , pp. 97-104
    • Liew, M.1    Nelson, L.2    Margraf, R.3
  • 14
    • 0030425193 scopus 로고    scopus 로고
    • Prenatal diagnosis of β-thalassemia using multiplex allele-specific amplification (MASPCR) in Chinese families
    • Mao YH, Sheng M, Cheng MJ, et al. (1996) Prenatal diagnosis of β-thalassemia using multiplex allele-specific amplification (MASPCR) in Chinese families. Haematology 1:253-257.
    • (1996) Haematology , vol.1 , pp. 253-257
    • Mao, Y.H.1    Sheng, M.2    Cheng, M.J.3
  • 15
    • 24644503710 scopus 로고    scopus 로고
    • A novel frameshift mutation (G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values
    • Mo QH, Li XR, Li CF, et al. (2005) A novel frameshift mutation (G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values. J Clin Pathol 58:923-926.
    • (2005) J Clin Pathol , vol.58 , pp. 923-926
    • Mo, Q.H.1    Li, X.R.2    Li, C.F.3
  • 16
    • 0024605518 scopus 로고
    • Analysis of any point mutation in DNA, the amplification refractory mutation system (ARMS)
    • Newton CR, Graham A, Heptinstall LE, et al. (1989) Analysis of any point mutation in DNA, the amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516.
    • (1989) Nucleic Acids Res , vol.17 , pp. 2503-2516
    • Newton, C.R.1    Graham, A.2    Heptinstall, L.E.3
  • 17
    • 85047690630 scopus 로고
    • Feasibility of antenatal diagnosis of b-thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations
    • Old J, Petrou M, Modell B, Weatherall D (1984) Feasibility of antenatal diagnosis of b-thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations. Br J Haematol 57:255-263.
    • (1984) Br J Haematol , vol.57 , pp. 255-263
    • Old, J.1    Petrou, M.2    Modell, B.3    Weatherall, D.4
  • 18
    • 0020317962 scopus 로고
    • Betathalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box
    • Poncz M, Ballantine M, Solowiejczyk D, et al. (1982) Betathalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box. J Biol Chem 257:5994-5996.
    • (1982) J Biol Chem , vol.257 , pp. 5994-5996
    • Poncz, M.1    Ballantine, M.2    Solowiejczyk, D.3
  • 19
    • 34250658870 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis for simple and efficient molecular diagnostics
    • Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608.
    • (2007) Pharmacogenomics , vol.8 , pp. 597-608
    • Reed, G.H.1    Kent, J.O.2    Wittwer, C.T.3
  • 21
    • 34547639077 scopus 로고    scopus 로고
    • Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting
    • Seipp MT, Durtschi JD, Liew MA, et al. (2007) Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting. J Mol Diagn 9:284-289.
    • (2007) J Mol Diagn , vol.9 , pp. 284-289
    • Seipp, M.T.1    Durtschi, J.D.2    Liew, M.A.3
  • 22
    • 69849085108 scopus 로고    scopus 로고
    • Multiplex amplicon genotyping by high-resolution melting
    • Seipp MT, Durtschi JD, Voelkerding KV, et al. (2009) Multiplex amplicon genotyping by high-resolution melting. J Biomol Tech 20:160-164.
    • (2009) J Biomol Tech , vol.20 , pp. 160-164
    • Seipp, M.T.1    Durtschi, J.D.2    Voelkerding, K.V.3
  • 23
    • 38749098667 scopus 로고    scopus 로고
    • Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting
    • Seipp MT, Pattison D, Durtschi JD, et al. (2008) Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting. Clin Chem 54:108-115.
    • (2008) Clin Chem , vol.54 , pp. 108-115
    • Seipp, M.T.1    Pattison, D.2    Durtschi, J.D.3
  • 24
    • 70349772943 scopus 로고    scopus 로고
    • Rapid identification of HBB gene mutations by high-resolution melting analysis
    • Shih H-C, Er T-K, Chang T-J (2009) Rapid identification of HBB gene mutations by high-resolution melting analysis. Clin Biochem 42:1667-1676.
    • (2009) Clin Biochem , vol.42 , pp. 1667-1676
    • Shih, H.-C.1    Er, T.-K.2    Chang, T.-J.3
  • 25
    • 4043113458 scopus 로고    scopus 로고
    • Beta-globin mutation detection by tagged singlebase extension and hybridization to universal glass and flow-through microarrays
    • van Moorsel CH, vanWijngaarden EE, Fokkema IF, et al. (2004) Beta-globin mutation detection by tagged singlebase extension and hybridization to universal glass and flow-through microarrays. Eur J Hum Genet 12:567-573.
    • (2004) Eur J Hum Genet , vol.12 , pp. 567-573
    • Van Moorsel, C.H.1    Van Wijngaarden, E.E.2    Fokkema, I.F.3
  • 26
    • 0003550379 scopus 로고    scopus 로고
    • fourth edition. Blackwell Science Ltd., Oxford, England
    • Weatherall DJ, Clegg JB (2001) The Thalassemia Syndromes, fourth edition. Blackwell Science Ltd., Oxford, England, pp 237-286.
    • (2001) The Thalassemia Syndromes , pp. 237-286
    • Weatherall, D.J.1    Clegg, J.B.2
  • 27
    • 34147143445 scopus 로고    scopus 로고
    • Molecular analysis of alpha/betathalassemia in a Southern Chinese Population
    • Ye BC, Zhang Z, Lei Z (2007) Molecular analysis of alpha/betathalassemia in a Southern Chinese Population. Genet Test 11:75-83.
    • (2007) Genet Test , vol.11 , pp. 75-83
    • Ye, B.C.1    Zhang, Z.2    Lei, Z.3
  • 28
    • 0023866477 scopus 로고
    • Molecular basis of β-thalassemia in south China, strategy for DNA analysis
    • Zhang JZ, Cai SP, He X, et al. (1988) Molecular basis of β-thalassemia in south China, strategy for DNA analysis. Hum Genet 78:37-40.
    • (1988) Hum Genet , vol.78 , pp. 37-40
    • Zhang, J.Z.1    Cai, S.P.2    He, X.3
  • 29
    • 0023247246 scopus 로고
    • Disorders of hemoglobin in China
    • Zeng YT, Huang SZ (1987) Disorders of hemoglobin in China. J Med Genet 24:578-583.
    • (1987) J Med Genet , vol.24 , pp. 578-583
    • Zeng, Y.T.1    Huang, S.Z.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.