메뉴 건너뛰기




Volumn 22, Issue 4, 2003, Pages 326-336

Rapid detection of β-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC

Author keywords

Beta thalassemia; DHPLC; Globin, beta; HBB; Heteroduplex analysis; Mutation screening; Primer extension analysis

Indexed keywords

BETA GLOBIN; HETERODUPLEX; PRIMER DNA;

EID: 0141642025     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10265     Document Type: Article
Times cited : (36)

References (39)
  • 2
    • 0029294082 scopus 로고
    • The beta- and delta-thalassemia repository (eighth edition)
    • Baysal E, Carver ME 1995. The beta- and delta-thalassemia repository (eighth edition). Hemoglobin 19:213-236.
    • (1995) Hemoglobin , vol.19 , pp. 213-236
    • Baysal, E.1    Carver, M.E.2
  • 3
    • 0030852959 scopus 로고    scopus 로고
    • Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry
    • Braun A, Little DP, Koster H. 1997. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin Chem 43:1151-1158.
    • (1997) Clin Chem , vol.43 , pp. 1151-1158
    • Braun, A.1    Little, D.P.2    Koster, H.3
  • 4
    • 0027396818 scopus 로고
    • Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3′ end TAG->GAG in a Chinese patient
    • Chiou SS, Chang TT, Chen PH, Lee LS, Chen TS, Chang JG. 1993. Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3′ end TAG->GAG in a Chinese patient. Br J Haematol 83:112-117.
    • (1993) Br J Haematol , vol.83 , pp. 112-117
    • Chiou, S.S.1    Chang, T.T.2    Chen, P.H.3    Lee, L.S.4    Chen, T.S.5    Chang, J.G.6
  • 6
    • 0031038324 scopus 로고    scopus 로고
    • Slowly but surely towards better scanning for mutations
    • Cotton RG. 1997. Slowly but surely towards better scanning for mutations. Trends Genet 13:43-46.
    • (1997) Trends Genet , vol.13 , pp. 43-46
    • Cotton, R.G.1
  • 7
    • 0032103987 scopus 로고    scopus 로고
    • MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs
    • Fei Z, Ono T, Smith LM. 1998. MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs. Nucleic Acids Res 26:2827-2828.
    • (1998) Nucleic Acids Res , vol.26 , pp. 2827-2828
    • Fei, Z.1    Ono, T.2    Smith, L.M.3
  • 9
    • 0030890116 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
    • Haff LA, Smirnov IP. 1997. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res 7:378-388.
    • (1997) Genome Res , vol.7 , pp. 378-388
    • Haff, L.A.1    Smirnov, I.P.2
  • 10
    • 0025349984 scopus 로고
    • Molecular analysis of deletions in the human beta-globin gene cluster: Deletion junctions and locations of breakpoints
    • Henthorn PS, Smithies O, Mager DL. 1990. Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. Genomics 6:226-237.
    • (1990) Genomics , vol.6 , pp. 226-237
    • Henthorn, P.S.1    Smithies, O.2    Mager, D.L.3
  • 11
    • 0343247681 scopus 로고    scopus 로고
    • Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening
    • Higgins GS, Little DP, Koster H. 1997. Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening. Biotechniques 23:710-714.
    • (1997) Biotechniques , vol.23 , pp. 710-714
    • Higgins, G.S.1    Little, D.P.2    Koster, H.3
  • 12
    • 0033016069 scopus 로고    scopus 로고
    • Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography
    • Hoogendoorn B, Owen MJ, Oefner PJ, Williams N, Austin J, and O'Donovan MC. 1999. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Hum Genet 104:89-93.
    • (1999) Hum Genet , vol.104 , pp. 89-93
    • Hoogendoorn, B.1    Owen, M.J.2    Oefner, P.J.3    Williams, N.4    Austin, J.5    O'Donovan, M.C.6
  • 14
    • 0032878113 scopus 로고    scopus 로고
    • Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis
    • Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, and O'Donovan MC. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133-1140.
    • (1999) Clin Chem , vol.45 , pp. 1133-1140
    • Jones, A.C.1    Austin, J.2    Hansen, N.3    Hoogendoorn, B.4    Oefner, P.J.5    Cheadle, J.P.6    O'Donovan, M.C.7
  • 15
    • 0025296040 scopus 로고
    • The thalassemia syndromes: Molecular basis and prenatal diagnosis in 1990
    • Kazazian HH Jr. 1990. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 27:209-228.
    • (1990) Semin Hematol , vol.27 , pp. 209-228
    • Kazazian H.H., Jr.1
  • 16
    • 0031004892 scopus 로고    scopus 로고
    • Molecular characterization of beta-thalassemia in Taiwan and the identification of two new mutations
    • Ko TM, Tseng LH, Hsu PM, Guu IJ, Lin YW, Li SF, Lee TY, Chuang SM. 1997. Molecular characterization of beta-thalassemia in Taiwan and the identification of two new mutations. Hemoglobin 21:131-142.
    • (1997) Hemoglobin , vol.21 , pp. 131-142
    • Ko, T.M.1    Tseng, L.H.2    Hsu, P.M.3    Guu, I.J.4    Lin, Y.W.5    Li, S.F.6    Lee, T.Y.7    Chuang, S.M.8
  • 17
    • 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
  • 18
    • 0037275448 scopus 로고    scopus 로고
    • Bone marrow transplantation for beta-thalassaemia major: The UK experience in two paediatric centres
    • Lawson SE, Roberts IA, Amrolia P, Dokal I, Szydlo R, Darbyshire PJ. 2003. Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres. Br J Haematol 120:289-295.
    • (2003) Br J Haematol , vol.120 , pp. 289-295
    • Lawson, S.E.1    Roberts, I.A.2    Amrolia, P.3    Dokal, I.4    Szydlo, R.5    Darbyshire, P.J.6
  • 20
    • 0028306412 scopus 로고
    • Alpha and beta thalassaemia among Chinese children in Guangxi Province. P.R. China: Molecular and haematological characterization
    • Liang R, Liang S, Jiang NH, Wen XJ, Zhao JB, Nechtman JF, Stoming TA, Huisman TH. 1994. Alpha and beta thalassaemia among Chinese children in Guangxi Province. P.R. China: molecular and haematological characterization. Br J Haematol 86:351-354.
    • (1994) Br J Haematol , vol.86 , pp. 351-354
    • Liang, R.1    Liang, S.2    Jiang, N.H.3    Wen, X.J.4    Zhao, J.B.5    Nechtman, J.F.6    Stoming, T.A.7    Huisman, T.H.8
  • 21
    • 0025911028 scopus 로고
    • The spectrum of beta-thalassemia mutations in Taiwan: Identification of a novel frameshift mutation
    • Lin Li, Lin KS, Lin KH, Chang HC. 1991. The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. Am J Hum Genet 48:809-812.
    • (1991) Am J Hum Genet , vol.48 , pp. 809-812
    • Lin, Li.1    Lin, K.S.2    Lin, K.H.3    Chang, H.C.4
  • 22
    • 0026593247 scopus 로고
    • A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient
    • Lin Li, Lin KS, Lin KH, d Cheng TY. 1992. A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient. Am J Hum Genet 50:237-238.
    • (1992) Am J Hum Genet , vol.50 , pp. 237-238
    • Lin, Li.1    Lin, K.S.2    Lin, K.H.3    Cheng, T.Y.D.4
  • 23
    • 0036976639 scopus 로고    scopus 로고
    • Thalassemia: Current approach to an old disease
    • Lo L, Singer ST 2002. Thalassemia: current approach to an old disease. Pediatr Clin North Am 49:1165-1191.
    • (2002) Pediatr Clin North Am , vol.49 , pp. 1165-1191
    • Lo, L.1    Singer, S.T.2
  • 25
    • 0027478270 scopus 로고
    • Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay
    • Nyren P, Pettersson B, Uhlen M. 1993. Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay. Anal Biochem 208:171-175.
    • (1993) Anal Biochem , vol.208 , pp. 171-175
    • Nyren, P.1    Pettersson, B.2    Uhlen, M.3
  • 27
    • 0034629224 scopus 로고    scopus 로고
    • Allelic discrimination by denaturing high-performance liquid chromatography
    • Oefner PJ. 2000. Allelic discrimination by denaturing high-performance liquid chromatography. J Chromatogr B Biomed Sci Appl 739:345-355.
    • (2000) J Chromatogr B Biomed Sci Appl , vol.739 , pp. 345-355
    • Oefner, P.J.1
  • 28
    • 0037176228 scopus 로고    scopus 로고
    • A decade of high-resolution liquid chromatography of nucleic acids on styrene-divinylbenzene copolymers
    • Oefner PJ, Huber CG. 2002. A decade of high-resolution liquid chromatography of nucleic acids on styrene-divinylbenzene copolymers. J Chromatogr B Analyt Technol Biomed Life Sci 782:27-55.
    • (2002) J Chromatogr B Analyt Technol Biomed Life Sci , vol.782 , pp. 27-55
    • Oefner, P.J.1    Huber, C.G.2
  • 29
    • 0029761797 scopus 로고    scopus 로고
    • Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation
    • Pastinen T, Partanen J, Syvanen AC. 1996. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation. Clin Chem 42:1391-1397.
    • (1996) Clin Chem , vol.42 , pp. 1391-1397
    • Pastinen, T.1    Partanen, J.2    Syvanen, A.C.3
  • 30
    • 0030722621 scopus 로고    scopus 로고
    • Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection
    • Piggee CA, Muth J, Carrilho E, Karger BL. 1997. Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection. J Chromatogr A 781:367-375.
    • (1997) J Chromatogr A , vol.781 , pp. 367-375
    • Piggee, C.A.1    Muth, J.2    Carrilho, E.3    Karger, B.L.4
  • 31
    • 0034658876 scopus 로고    scopus 로고
    • A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS
    • Sun X, Ding H, Hung K, Guo B. 2000. A new MALDI-TOF based mini-sequencing assay for genotyping of SNPS. Nucleic Acids Res 28:E68.
    • (2000) Nucleic Acids Res , vol.28
    • Sun, X.1    Ding, H.2    Hung, K.3    Guo, B.4
  • 32
    • 0027400665 scopus 로고
    • Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing
    • Syvanen AC, Sajantila A, Lukka M. 1993. Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. Am J Hum Genet 52:46-59.
    • (1993) Am J Hum Genet , vol.52 , pp. 46-59
    • Syvanen, A.C.1    Sajantila, A.2    Lukka, M.3
  • 36
    • 0029843953 scopus 로고    scopus 로고
    • Thalassemia: A global public health problem
    • Weatherall DJ, Clegg JB. 1996. Thalassemia: a global public health problem. Nat Med 2:847-849.
    • (1996) Nat Med , vol.2 , pp. 847-849
    • Weatherall, D.J.1    Clegg, J.B.2
  • 37
    • 0034889014 scopus 로고    scopus 로고
    • Inherited haemoglobin disorders: An increasing global health problem
    • Weatherall DJ, Clegg JB. 2001. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ 79:704-712.
    • (2001) Bull World Health Organ , vol.79 , pp. 704-712
    • Weatherall, D.J.1    Clegg, J.B.2
  • 38
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • Xiao W, Oefner PJ. 2001. Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439-474.
    • (2001) Hum Mutat , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2
  • 39
    • 0029976507 scopus 로고    scopus 로고
    • Antenatal screening and fetal diagnosis of beta-thalassemia in a Chinese population: Prevalence of the beta-thalassemia trait in the Guangzhou area of China
    • Xu X, Liao C, Liu Z, Huang Y, Zhang J, Li J, Peng Z, Qiu L, Xu Q. 1996. Antenatal screening and fetal diagnosis of beta-thalassemia in a Chinese population: prevalence of the beta-thalassemia trait in the Guangzhou area of China. Hum Genet 98:199-202.
    • (1996) Hum Genet , vol.98 , pp. 199-202
    • Xu, X.1    Liao, C.2    Liu, Z.3    Huang, Y.4    Zhang, J.5    Li, J.6    Peng, Z.7    Qiu, L.8    Xu, Q.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.