메뉴 건너뛰기




Volumn 412, Issue 11-12, 2011, Pages 999-1002

Multiplexed genotyping of beta globin mutations with MALDI-TOF mass spectrometry

Author keywords

Beta globin gene mutation; Beta thalassemia; MALDI TOF; Mass spectrometry; Molecular testing; Multiplexed genotyping

Indexed keywords

BETA GLOBIN;

EID: 79954987825     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2011.02.006     Document Type: Article
Times cited : (5)

References (20)
  • 3
    • 31044450333 scopus 로고    scopus 로고
    • Characterisation of ß-globin gene mutations in Malaysian children: a strategy for the control of ß-thalassaemia in developing country
    • Thong M.K., Tan J., Tan K.L., Yap S.F. Characterisation of ß-globin gene mutations in Malaysian children: a strategy for the control of ß-thalassaemia in developing country. J Trop Pediatr 2005, 51:328-333.
    • (2005) J Trop Pediatr , vol.51 , pp. 328-333
    • Thong, M.K.1    Tan, J.2    Tan, K.L.3    Yap, S.F.4
  • 4
    • 77951934080 scopus 로고    scopus 로고
    • The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity
    • Chen W., Zhang X., Shang X., Cai R., Li L., Zhou T., Sun M., Xiong F., Xu X. The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. BMC Med Genet 2010, 11.
    • (2010) BMC Med Genet , pp. 11
    • Chen, W.1    Zhang, X.2    Shang, X.3    Cai, R.4    Li, L.5    Zhou, T.6    Sun, M.7    Xiong, F.8    Xu, X.9
  • 6
    • 75049086192 scopus 로고    scopus 로고
    • Frequency of Positive XmnI G[gamma] polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation
    • Neishabury M., Azarkeivan A., Najmabadi H. Frequency of Positive XmnI G[gamma] polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation. Blood Cells Mol Dis 2009, 44:95-99.
    • (2009) Blood Cells Mol Dis , vol.44 , pp. 95-99
    • Neishabury, M.1    Azarkeivan, A.2    Najmabadi, H.3
  • 7
    • 0031782506 scopus 로고    scopus 로고
    • Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling
    • Krishnamurti L., Chui D.H., Dallaire M., LeRoy B., Waye J.S., Perentesis J.P. Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling. J Pediatr 1998, 132:863-865.
    • (1998) J Pediatr , vol.132 , pp. 863-865
    • Krishnamurti, L.1    Chui, D.H.2    Dallaire, M.3    LeRoy, B.4    Waye, J.S.5    Perentesis, J.P.6
  • 8
    • 19944428855 scopus 로고    scopus 로고
    • Molecular defects in the β-globin gene identified in different ethnic groups/populations during prenatal diagnosis for β-thalassemia: a Malaysian experience
    • Tan J., George E., Tan K., Chow T., Tan P., Hassan J., Chia P., Subramanium R., Chandran R., Yap S. Molecular defects in the β-globin gene identified in different ethnic groups/populations during prenatal diagnosis for β-thalassemia: a Malaysian experience. Clin Exp Med 2004, 4:142-147.
    • (2004) Clin Exp Med , vol.4 , pp. 142-147
    • Tan, J.1    George, E.2    Tan, K.3    Chow, T.4    Tan, P.5    Hassan, J.6    Chia, P.7    Subramanium, R.8    Chandran, R.9    Yap, S.10
  • 10
  • 11
    • 0036436890 scopus 로고    scopus 로고
    • Rapid detection of major Mediterranean ß-thalassaemia mutations by real-time polymerase reaction using fluorophore-labelled hybridization probes
    • Moreno I., Bolufer P., Luz Perez M., Barragan E., Sanz M.A. Rapid detection of major Mediterranean ß-thalassaemia mutations by real-time polymerase reaction using fluorophore-labelled hybridization probes. Br J Haematol 2002, 119:554-557.
    • (2002) Br J Haematol , vol.119 , pp. 554-557
    • Moreno, I.1    Bolufer, P.2    Luz Perez, M.3    Barragan, E.4    Sanz, M.A.5
  • 12
    • 0037305165 scopus 로고    scopus 로고
    • Multiplex minisequencing screen for common Southeast Asian and Indian ß-thalassemia mutations
    • Wang W., Kham S.K.Y., Yeo G.-H., Quah T.-C., Chong S.S. Multiplex minisequencing screen for common Southeast Asian and Indian ß-thalassemia mutations. Clin Chem 2003, 49:209-218.
    • (2003) Clin Chem , vol.49 , pp. 209-218
    • Wang, W.1    Kham, S.K.Y.2    Yeo, G.-H.3    Quah, T.-C.4    Chong, S.S.5
  • 13
    • 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., Chang Y.-S., Liu T.-C., Chang J.-G. Rapid identification of HBB gene mutations by high-resolution melting analysis. Clin Biochem 2009, 42:1667-1676.
    • (2009) Clin Biochem , vol.42 , pp. 1667-1676
    • Shih, H.-C.1    Er, T.-K.2    Chang, T.-J.3    Chang, Y.-S.4    Liu, T.-C.5    Chang, J.-G.6
  • 14
    • 0038148257 scopus 로고    scopus 로고
    • Rapid, accurate genotyping of ß-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay
    • Wu G., Hua L., Zhu J., Mo Q., Xu X. Rapid, accurate genotyping of ß-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay. Br J Haematolgy 2003, 122:311-316.
    • (2003) Br J Haematolgy , vol.122 , pp. 311-316
    • Wu, G.1    Hua, L.2    Zhu, J.3    Mo, Q.4    Xu, X.5
  • 15
    • 43449120116 scopus 로고    scopus 로고
    • Rapid genotyping of known mutations and polymorphisms in ß-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes
    • Li Q., Li L.-Y., Huang S.-W., Li L., Chen X.W., Zhou W.J., Xu X.M. Rapid genotyping of known mutations and polymorphisms in ß-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes. Clin Biochem 2008, 41:681-687.
    • (2008) Clin Biochem , vol.41 , pp. 681-687
    • Li, Q.1    Li, L.-Y.2    Huang, S.-W.3    Li, L.4    Chen, X.W.5    Zhou, W.J.6    Xu, X.M.7
  • 16
    • 27744511995 scopus 로고    scopus 로고
    • Matrix-assisted laser desorption/ionization time-of-flight
    • Wjst M., Boom D. Matrix-assisted laser desorption/ionization time-of-flight. Mass Spectrom 2005, 125-137.
    • (2005) Mass Spectrom , pp. 125-137
    • Wjst, M.1    Boom, D.2
  • 17
    • 38749100192 scopus 로고    scopus 로고
    • High-throughput genotyping of oncogenic human Papilloma viruses with MALDI-TOF mass spectrometry
    • Soderlund-Strand A., Dillner J., Carlson J. High-throughput genotyping of oncogenic human Papilloma viruses with MALDI-TOF mass spectrometry. Clin Chem 2008, 54:86-92.
    • (2008) Clin Chem , vol.54 , pp. 86-92
    • Soderlund-Strand, A.1    Dillner, J.2    Carlson, J.3
  • 18
    • 54049121096 scopus 로고    scopus 로고
    • Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALDI-TOF mass spectrometry: reliable genotyping in different ethnic groups
    • Schaeffeler E., Zanger U.M., Eichelbaum M., Asante-Poku S., Shin J.-G., Schwab M. Highly multiplexed genotyping of thiopurine s-methyltransferase variants using MALDI-TOF mass spectrometry: reliable genotyping in different ethnic groups. Clin Chem 2008, 54:1637-1647.
    • (2008) Clin Chem , vol.54 , pp. 1637-1647
    • Schaeffeler, E.1    Zanger, U.M.2    Eichelbaum, M.3    Asante-Poku, S.4    Shin, J.-G.5    Schwab, M.6
  • 19
    • 78651304743 scopus 로고    scopus 로고
    • Mild hemoglobin H-constant spring disease with β-thalassemia-a case report
    • Li D.-Z., Liao C., Zhou J.-Y., Xie X.-M., Li J. Mild hemoglobin H-constant spring disease with β-thalassemia-a case report. Ann Hematol 2010, 90:123-124.
    • (2010) Ann Hematol , vol.90 , pp. 123-124
    • Li, D.-Z.1    Liao, C.2    Zhou, J.-Y.3    Xie, X.-M.4    Li, J.5
  • 20
    • 85086610746 scopus 로고    scopus 로고
    • Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight
    • Oeth P., Mistro G.d., Marnellos G., Shi T., Boom D. Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight. Mass Spectrom (MassARRAY®) 2008, 307-343.
    • (2008) Mass Spectrom (MassARRAY®) , pp. 307-343
    • Oeth, P.1    Mistro, G.2    Marnellos, G.3    Shi, T.4    Boom, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.