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Volumn 15, Issue 3, 2010, Pages 182-186

Reverse hybridization StripAssay detection of β-thalassemia mutations in northeast Egypt

Author keywords

Beta Thalassemias; Egyptian children; Reverse hybridization StriPassay

Indexed keywords

BETA GLOBIN; GENOMIC DNA; DIAGNOSTIC KIT;

EID: 77953602832     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1179/102453310X12583347010214     Document Type: Article
Times cited : (10)

References (32)
  • 2
    • 0020419194 scopus 로고
    • Thalassemia in the Egyptian population
    • Habib Z, Book JA. Thalassemia in the Egyptian population. Hereditas 1982; 95: 149-158.
    • (1982) Hereditas , vol.95 , pp. 149-158
    • Habib, Z.1    Book, J.A.2
  • 3
    • 79952152113 scopus 로고
    • Thalassemia syndromes and other hemoglobinopathies
    • Cairo, Egypt.
    • Hashem N. Thalassemia syndromes and other hemoglobinopathies. Proceedings of the First International Conference, Vol.1. Cairo, Egypt. 1978; 54.
    • (1978) Proceedings of the First International Conference , vol.1 , pp. 54
    • Hashem, N.1
  • 5
    • 0037406282 scopus 로고    scopus 로고
    • Rapid screening of multiple globin gene mutations by real-time PCR on the LightCycler: Application to carrier screening and prenatal diagnosis of thalassemia syndromes
    • Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Rapid screening of multiple globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem 2003; 49: 5769-5776.
    • (2003) Clin Chem , vol.49 , pp. 5769-5776
    • Vrettou, C.1    Traeger-Synodinos, J.2    Tzetis, M.3    Malamis, G.4    Kanavakis, E.5
  • 6
    • 0033536288 scopus 로고    scopus 로고
    • The b-thalassemias
    • Olivieri NF. The b-thalassemias. N Eng J Med 1999; 341: 99-109.
    • (1999) N Eng J Med , vol.341 , pp. 99-109
    • Olivieri, N.F.1
  • 8
    • 0029294082 scopus 로고
    • The beta- and delta-thalassemia repository (eighth edition)
    • Baysal E, Carver MF. The beta- and delta-thalassemia repository (eighth edition). Hemoglobin 1995; 19: 213-236.
    • (1995) Hemoglobin , vol.19 , pp. 213-236
    • Baysal, E.1    Carver, M.F.2
  • 9
    • 0028294958 scopus 로고
    • Guidelines for the fetal diagnosis of globin gene disorders. Globin gene disorder working party of the bcsh general haematology task force
    • Bhavnani M, Brozovic M, Old JM et al. Guidelines for the fetal diagnosis of globin gene disorders. Globin Gene Disorder Working Party of the BCSH General Haematology Task Force. J Clin Pathol 1994; 47: 199-204.
    • (1994) J Clin Pathol , vol.47 , pp. 199-204
    • Bhavnani, M.1    Brozovic, M.2    Old, J.M.3
  • 10
    • 33846994420 scopus 로고    scopus 로고
    • Screening and genetic diagnosis of haemoglobinopathies
    • Old JM. Screening and genetic diagnosis of haemoglobinopathies. Scand J Clin Lab Invest 2007; 67: 71-86.
    • (2007) Scand J Clin Lab Invest , vol.67 , pp. 71-86
    • Old, J.M.1
  • 11
    • 0011021930 scopus 로고    scopus 로고
    • Amplification refractory mutation system (ARMS) and reverse hybridization in the detection of beta-thalassemia mutations
    • Najmabadi H, Teimourian S, Khatibi T et al. Amplification refractory mutation system (ARMS) and reverse hybridization in the detection of beta-thalassemia mutations. Arch Inn Med 2001; 4: 165-170.
    • (2001) Arch Inn Med , vol.4 , pp. 165-170
    • Najmabadi, H.1    Teimourian, S.2    Khatibi, T.3
  • 12
    • 0034981816 scopus 로고    scopus 로고
    • Genetic diseases of hemoglobin: Diagnostic methods for elucidating beta-thalassemia mutations
    • Tuzmen S, Schechter AN. Genetic diseases of hemoglobin: diagnostic methods for elucidating beta-thalassemia mutations. Blood Rev 2001; 15: 19-29.
    • (2001) Blood Rev , vol.15 , pp. 19-29
    • Tuzmen, S.1    Schechter, A.N.2
  • 13
    • 34248146018 scopus 로고    scopus 로고
    • The molecular pathology of beta-thalassemia in Turkey: The Bogäziçi university experience
    • Basak AN. The molecular pathology of beta-thalassemia in Turkey: the Bogäziçi university experience. Hemoglobin 2007; 31: 233-241.
    • (2007) Hemoglobin , vol.31 , pp. 233-241
    • Basak, A.N.1
  • 14
    • 33847014141 scopus 로고    scopus 로고
    • Rapid detection of beta- Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: A step in disease control
    • Hussein G, Fawzy M, Serafi TE et al. Rapid detection of beta- Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control. Hemoglobin 2007; 31: 49-62.
    • (2007) Hemoglobin , vol.31 , pp. 49-62
    • Hussein, G.1    Fawzy, M.2    Serafi, T.E.3
  • 15
    • 0025090540 scopus 로고
    • Molecular characterization of beta-thalassemia mutations in Egypt
    • Novelletto A, HafezM, Deidda G et al. Molecular characterization of beta-thalassemia mutations in Egypt. Hum Genet 1990; 85: 272-274.
    • (1990) Hum Genet , vol.85 , pp. 272-274
    • Novelletto, A.1    Hafezm Deidda, G.2
  • 16
    • 0032819214 scopus 로고    scopus 로고
    • Spectrum of P-thalassemia mutations in Egypt
    • Waye JS, Borys S, Eng B et al. Spectrum of P-thalassemia mutations in Egypt. Hemoglobin 1999; 23: 255-261.
    • (1999) Hemoglobin , vol.23 , pp. 255-261
    • Waye, J.S.1    Borys, S.2    Eng, B.3
  • 18
    • 33847012590 scopus 로고    scopus 로고
    • Study of beta-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients
    • El-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of beta-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients. Hemoglobin 2007; 31: 63-69.
    • (2007) Hemoglobin , vol.31 , pp. 63-69
    • El-Gawhary, S.1    El-Shafie, S.2    Niazi, M.3    Aziz, M.4    El-Beshlawy, A.5
  • 20
    • 0028172182 scopus 로고
    • Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the 288 (CRT) mutation
    • Waye JS, Patterson M, Eng B, Scully MF. Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the 288 (CRT) mutation. Hemoglobin 1994; 18: 383-388.
    • (1994) Hemoglobin , vol.18 , pp. 383-388
    • Waye, J.S.1    Patterson, M.2    Eng, B.3    Scully, M.F.4
  • 21
    • 0028971968 scopus 로고
    • The frequency of 14 beta-thalassemia mutations in the Arab populations
    • El-Hazmi MA, Warsy AS, Al-Swailem AR. The frequency of 14 beta-thalassemia mutations in the Arab populations. Hemoglobin 1995; 19: 353-360.
    • (1995) Hemoglobin , vol.19 , pp. 353-360
    • El-Hazmi, M.A.1    Warsy, A.S.2    Al-Swailem, A.R.3
  • 23
    • 0023849720 scopus 로고
    • The peculiar spectrum of beta-thalassemia genes in Tunisia
    • Chibani J, Vidaud M, Duquesnoy P et al. The peculiar spectrum of beta-thalassemia genes in Tunisia. Hum Genet 1988; 78: 190-192.
    • (1988) Hum Genet , vol.78 , pp. 190-192
    • Chibani, J.1    Vidaud, M.2    Duquesnoy, P.3
  • 24
    • 2642556955 scopus 로고    scopus 로고
    • Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya
    • Keser I, Sanlioglu AD, Manguoglu E et al. Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya. Acta Haematol 2004; 111: 205-210.
    • (2004) Acta Haematol , vol.111 , pp. 205-210
    • Keser, I.1    Sanlioglu, A.D.2    Manguoglu, E.3
  • 25
    • 0026774243 scopus 로고
    • The b-thalassemia mutations in the population of Cyprus
    • Baysal E, Indrak K, Bozkurt G et al. The b-thalassemia mutations in the population of Cyprus. Br J Haematol 1992; 81: 607-609.
    • (1992) Br J Haematol , vol.81 , pp. 607-609
    • Baysal, E.1    Indrak, K.2    Bozkurt, G.3
  • 26
    • 0025334655 scopus 로고
    • Beta-thalassemia in four Mediterranean countries: An editorial commentary
    • Huisman TH. Beta-thalassemia in four Mediterranean countries: an editorial commentary. Hemoglobin 1990; 14: 35-39.
    • (1990) Hemoglobin , vol.14 , pp. 35-39
    • Huisman, T.H.1
  • 27
    • 0348133628 scopus 로고    scopus 로고
    • Deniz: The electronic database for b-thalassaemia mutations in the Arab world
    • Tadmouri G. Deniz: the electronic database for b-thalassaemia mutations in the Arab world. Saudi Med J 2003; 24: 1192-1198.
    • (2003) Saudi Med J , vol.24 , pp. 1192-1198
    • Tadmouri, G.1
  • 28
    • 33748929647 scopus 로고    scopus 로고
    • Molecular characterization of beta-thalassemia in the Dohuk region of Iraq
    • Al-Allawi NA, Jubrael JM, Hughson M. Molecular characterization of beta-thalassemia in the Dohuk region of Iraq. Hemoglobin 2006; 30: 479-486.
    • (2006) Hemoglobin , vol.30 , pp. 479-486
    • Al-Allawi, N.A.1    Jubrael, J.M.2    Hughson, M.3
  • 29
    • 34248219090 scopus 로고    scopus 로고
    • Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
    • Puehringer H, Najmabadi H, Law HY et al. Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin Chem Lab Med 2007; 45: 605-610.
    • (2007) Clin Chem Lab Med , vol.45 , pp. 605-610
    • Puehringer, H.1    Najmabadi, H.2    Law, H.Y.3
  • 30
    • 11144353687 scopus 로고    scopus 로고
    • Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever
    • Delague V, Kriegshäuser G, Oberkanins C, Mégarbané A. Reverse hybridization vs. DNA sequencing in the molecular diagnosis of Familial Mediterranean fever. Genet Test 2004; 8: 65-68.
    • (2004) Genet Test , vol.8 , pp. 65-68
    • Delague, V.1    Kriegshäuser, G.2    Oberkanins, C.3    Mégarbané, A.4
  • 31
    • 55849129568 scopus 로고    scopus 로고
    • Genetic determinants of phenotype in beta-thalassemia
    • Panigrahi I, Agarwal S. Genetic determinants of phenotype in beta-thalassemia. Hematology 2008; 13: 247-252.
    • (2008) Hematology , vol.13 , pp. 247-252
    • Panigrahi, I.1    Agarwal, S.2
  • 32
    • 20344382303 scopus 로고    scopus 로고
    • Genetic modifiers of beta-thalassemia
    • Thein SL. Genetic modifiers of beta-thalassemia. Haematologica 2005; 90: 649-660.
    • (2005) Haematologica , vol.90 , pp. 649-660
    • Thein, S.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.