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Volumn 33, Issue 1, 2009, Pages 24-36

Molecular heterogeneity of β-thalassemia in Algeria: How to face up to a major health problem

Author keywords

thalassemia ( thal); Diagnosis strategy; Genetic heterogeneity

Indexed keywords

ADULT; ALGERIA; ALLELE; ARTICLE; BETA THALASSEMIA; CHROMOSOME; CODON; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; POLYADENYLATION; PROMOTER REGION; SOCIAL STATUS;

EID: 60749132798     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802626061     Document Type: Article
Times cited : (20)

References (68)
  • 1
    • 0024504090 scopus 로고
    • β Thalassaemia mutations in Mediterranean populations
    • Cao A, Goossens M, Piratsu M. β Thalassaemia mutations in Mediterranean populations. Br J Haematol. 1989;71(3): 309-312.
    • (1989) Br J Haematol , vol.71 , Issue.3 , pp. 309-312
    • Cao, A.1    Goossens, M.2    Piratsu, M.3
  • 3
    • 0027281154 scopus 로고
    • The spectrum of β-thalassemia in Algeria: Possible origins of the molecular heterogeneity and a tentative diagnostic strategy
    • Bennani C, Tamouza R, Rouabhi F, et al. The spectrum of β-thalassemia in Algeria: Possible origins of the molecular heterogeneity and a tentative diagnostic strategy. Br J Haematol. 1993;84(2):335-337.
    • (1993) Br J Haematol , vol.84 , Issue.2 , pp. 335-337
    • Bennani, C.1    Tamouza, R.2    Rouabhi, F.3
  • 4
    • 0028176093 scopus 로고
    • The spectrum of β-thalassemia mutations in the Oran region of Algeria
    • Bouhass R, Perrin P, Trabuchet G. The spectrum of β-thalassemia mutations in the Oran region of Algeria. Hemoglobin. 1994;18(3):211-219.
    • (1994) Hemoglobin , vol.18 , Issue.3 , pp. 211-219
    • Bouhass, R.1    Perrin, P.2    Trabuchet, G.3
  • 5
    • 0028447618 scopus 로고
    • Anthropological approach to the heterogeneity of β-Thalassemia mutations in Northern Africa
    • Bennani C, Bouhass R, Perrin-Pecontal P, et al. Anthropological approach to the heterogeneity of β-Thalassemia mutations in Northern Africa. Hum Biol. 1994;66(3):369-382.
    • (1994) Hum Biol , vol.66 , Issue.3 , pp. 369-382
    • Bennani, C.1    Bouhass, R.2    Perrin-Pecontal, P.3
  • 6
    • 13144305793 scopus 로고
    • Genetic disorders in North African populations of the Maghreb: Morocco, Algeria and Tunisia
    • Teebi AS, Farag TI, eds, New York: Oxford University Press;
    • Labie D, Benabadji M, Elion J. Genetic disorders in North African populations of the Maghreb: Morocco, Algeria and Tunisia. In: Teebi AS, Farag TI, eds. Genetic Disorders among Arab Populations. New York: Oxford University Press; 1995:290-321.
    • (1995) Genetic Disorders among Arab Populations , pp. 290-321
    • Labie, D.1    Benabadji, M.2    Elion, J.3
  • 7
    • 4143121075 scopus 로고    scopus 로고
    • Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India
    • Colah R, Nadkarni A, Gorakshakar A, et al. Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells Mol Dis. 2004;33(2):153-157.
    • (2004) Blood Cells Mol Dis , vol.33 , Issue.2 , pp. 153-157
    • Colah, R.1    Nadkarni, A.2    Gorakshakar, A.3
  • 8
    • 0024284028 scopus 로고
    • A simple salting out for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out for extracting DNA from human nucleated cells. Nucleic Acid Res. 1988;16(3):1215.
    • (1988) Nucleic Acid Res , vol.16 , Issue.3 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 9
    • 0027383885 scopus 로고
    • Use of chemical clamps in denaturing gradient gel electrophoresis: Application in the detection of the most frequent Mediterranean β-thalassemic mutations
    • Fernandez E, Bienvenu T, Desclaux Arramond F, et al. Use of chemical clamps in denaturing gradient gel electrophoresis: Application in the detection of the most frequent Mediterranean β-thalassemic mutations. PCR Methods Appl. 1993;3(2):122-124.
    • (1993) PCR Methods Appl , vol.3 , Issue.2 , pp. 122-124
    • Fernandez, E.1    Bienvenu, T.2    Desclaux Arramond, F.3
  • 10
    • 0033846618 scopus 로고    scopus 로고
    • Analyse moléculaire et diagnostic prénatal de la β thalassemie: À propos de notre expérience en Tunisie centrale.
    • Laradi S, Haj Khellil A, Omri H, et al. Analyse moléculaire et diagnostic prénatal de la β thalassemie: à propos de notre expérience en Tunisie centrale. Ann Biol. 2000;58(4):453-460.
    • (2000) Ann Biol , vol.58 , Issue.4 , pp. 453-460
    • Laradi, S.1    Haj Khellil, A.2    Omri, H.3
  • 11
    • 0019949838 scopus 로고
    • Linkage of β thalassaemia mutations and β globin gene polymorphisms with DNA polymorphisms in human β globin gene cluster
    • Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of β thalassaemia mutations and β globin gene polymorphisms with DNA polymorphisms in human β globin gene cluster. Nature. 1982;296(5858):627-631.
    • (1982) Nature , vol.296 , Issue.5858 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr, H.H.2    Antonarakis, S.E.3
  • 12
    • 0024376665 scopus 로고
    • Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
    • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol. 1989;32(1):66-69.
    • (1989) Am J Hematol , vol.32 , Issue.1 , pp. 66-69
    • Sutton, M.1    Bouhassira, E.E.2    Nagel, R.L.3
  • 13
    • 0023923840 scopus 로고
    • β Thalassemia due to a T→A mutation within the ATA box
    • Fei YJ, Stoming TA, Efremov GD, et al. β Thalassemia due to a T→A mutation within the ATA box. Biochem Biophys Res Commun. 1988;153(2):741-747.
    • (1988) Biochem Biophys Res Commun , vol.153 , Issue.2 , pp. 741-747
    • Fei, Y.J.1    Stoming, T.A.2    Efremov, G.D.3
  • 14
    • 0343601382 scopus 로고
    • β-Thalassemia in American Blacks: Novel mutations in the TATA box and IVS-2 acceptor splice site
    • Antonarakis SE, Orkin SH, Cheng TC, et al. β-Thalassemia in American Blacks: Novel mutations in the TATA box and IVS-2 acceptor splice site. Proc Natl Acad Sci USA. 1984;81(4):1154-1158.
    • (1984) Proc Natl Acad Sci USA , vol.81 , Issue.4 , pp. 1154-1158
    • Antonarakis, S.E.1    Orkin, S.H.2    Cheng, T.C.3
  • 15
    • 0029927141 scopus 로고    scopus 로고
    • Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β globin gene
    • Badens C, Thuret I, Michel G, et al. Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β globin gene. Hum Mutat. 1996;8(1):89-92.
    • (1996) Hum Mutat , vol.8 , Issue.1 , pp. 89-92
    • Badens, C.1    Thuret, I.2    Michel, G.3
  • 16
    • 0021239296 scopus 로고
    • Abnormal processing of β Knossos RNA
    • Orkin SH, Antonarakis SE, Loukopoulos D. Abnormal processing of β Knossos RNA. Blood. 1984;64(1):311-313.
    • (1984) Blood , vol.64 , Issue.1 , pp. 311-313
    • Orkin, S.H.1    Antonarakis, S.E.2    Loukopoulos, D.3
  • 17
    • 0023849720 scopus 로고
    • The peculiar spectrum of β thalassemia genes in Tunisia
    • Chibani J, Vidaud M, Duquesnoy P, et al. The peculiar spectrum of β thalassemia genes in Tunisia. Hum Genet. 1988;78(2):190-192.
    • (1988) Hum Genet , vol.78 , Issue.2 , pp. 190-192
    • Chibani, J.1    Vidaud, M.2    Duquesnoy, P.3
  • 18
    • 0025158084 scopus 로고
    • A new mutation at IVS1 nt 2(T→A), in β thalassemia from Algeria
    • Bouhass R, Aguercif M, Trabuchet G, Godet J. A new mutation at IVS1 nt 2(T→A), in β thalassemia from Algeria. Blood. 1990;76(5):1054-1055.
    • (1990) Blood , vol.76 , Issue.5 , pp. 1054-1055
    • Bouhass, R.1    Aguercif, M.2    Trabuchet, G.3    Godet, J.4
  • 19
    • 0024570091 scopus 로고
    • 0-thalassemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene
    • 0-thalassemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. Br J Haematol. 1989;71(1):113-117.
    • (1989) Br J Haematol , vol.71 , Issue.1 , pp. 113-117
    • Gonzalez-Redondo, J.M.1    Stoming, T.A.2    Kutlar, F.3
  • 20
    • 0022478157 scopus 로고
    • β Thalassemia due to a novel mutation in IVS-1 sequence donor site consensus creating a restriction site
    • Lapoumeroulie C, Pagnier J, Bank A, Labie D, Krishnamoorthy R. β Thalassemia due to a novel mutation in IVS-1 sequence donor site consensus creating a restriction site. Biochem Biophy Res Commun. 1986;139(2):709-713.
    • (1986) Biochem Biophy Res Commun , vol.139 , Issue.2 , pp. 709-713
    • Lapoumeroulie, C.1    Pagnier, J.2    Bank, A.3    Labie, D.4    Krishnamoorthy, R.5
  • 21
    • 0020620321 scopus 로고
    • Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
    • Treisman R, Orkin SH, Maniatis T. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature. 1983;302(5909):591-596.
    • (1983) Nature , vol.302 , Issue.5909 , pp. 591-596
    • Treisman, R.1    Orkin, S.H.2    Maniatis, T.3
  • 22
    • 0023936038 scopus 로고
    • A novel β thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS2
    • Beldjord C, Lapoumeroulie C, Agnier J, et al. A novel β thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS2. Nucleic Acids Res. 1988;16(11):4927-4935.
    • (1988) Nucleic Acids Res , vol.16 , Issue.11 , pp. 4927-4935
    • Beldjord, C.1    Lapoumeroulie, C.2    Agnier, J.3
  • 23
    • 0023782895 scopus 로고
    • Clinical and genetic heterogeneity in Black patients with homozygous β-thalassemia from the Southeastern United States
    • Gonzalez-Redondo JM, Stoming TA, Lanclos KD, et al. Clinical and genetic heterogeneity in Black patients with homozygous β-thalassemia from the Southeastern United States. Blood. 1988;72(3):1007-1014.
    • (1988) Blood , vol.72 , Issue.3 , pp. 1007-1014
    • Gonzalez-Redondo, J.M.1    Stoming, T.A.2    Lanclos, K.D.3
  • 24
    • 0024477306 scopus 로고
    • A C→T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia
    • Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C→T substitution at nt -101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with 'silent' β-thalassemia. Blood. 1989;73(6):1705-1711.
    • (1989) Blood , vol.73 , Issue.6 , pp. 1705-1711
    • Gonzalez-Redondo, J.M.1    Stoming, T.A.2    Kutlar, A.3
  • 25
    • 0026767505 scopus 로고
    • Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β thalassemia in the Portuguese population
    • Faustino P, Osorio-Almeida L, Barbot J, et al. Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β thalassemia in the Portuguese population. Hum Genet. 1992;89(5):573-576.
    • (1992) Hum Genet , vol.89 , Issue.5 , pp. 573-576
    • Faustino, P.1    Osorio-Almeida, L.2    Barbot, J.3
  • 26
    • 0019802892 scopus 로고
    • Nonsense and frameshift mutations in β-thalassemia detected in cloned β-globin genes
    • Orkin SH, Goff SC. Nonsense and frameshift mutations in β-thalassemia detected in cloned β-globin genes. J Biol Chem. 1981;256(19):9782-9784.
    • (1981) J Biol Chem , vol.256 , Issue.19 , pp. 9782-9784
    • Orkin, S.H.1    Goff, S.C.2
  • 27
    • 0023216744 scopus 로고
    • A new mutation in IVS1-1 of the human β globin gene causing β thalassemia due to abnormal splicing
    • Atweth GF, Wong C, Reed R, et al. A new mutation in IVS1-1 of the human β globin gene causing β thalassemia due to abnormal splicing. Blood. 1987;70(1):147-151.
    • (1987) Blood , vol.70 , Issue.1 , pp. 147-151
    • Atweth, G.F.1    Wong, C.2    Reed, R.3
  • 28
    • 0024592813 scopus 로고
    • β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β globin gene
    • Wong C, Antonarakis SE, Goff SC, et al. β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β globin gene. Blood. 1989;73(4):914-918.
    • (1989) Blood , vol.73 , Issue.4 , pp. 914-918
    • Wong, C.1    Antonarakis, S.E.2    Goff, S.C.3
  • 32
    • 0023840728 scopus 로고
    • Mild and severe β-thalassemia among homozygotes from Turkey: Identification of the types by hybridization of amplified DNA with synthetic probes
    • Diaz-Chico JC, Yang KG, Stoming TA, et al. Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood. 1988;71(1):248-251.
    • (1988) Blood , vol.71 , Issue.1 , pp. 248-251
    • Diaz-Chico, J.C.1    Yang, K.G.2    Stoming, T.A.3
  • 33
    • 0033373391 scopus 로고    scopus 로고
    • Molecular, haematological and clinical studies of the -101 C→T substitution of the β-globin gene promoter in 25 β-thalassaemia intermedia patients and 45 heterozygotes
    • Maragoudaki E, Kanavakis E, Traeger-Synodinos J, Vrettou C, Tzettis M. Molecular, haematological and clinical studies of the -101 C→T substitution of the β-globin gene promoter in 25 β-thalassaemia intermedia patients and 45 heterozygotes. Br J Haematol. 1999;107(4):699-706.
    • (1999) Br J Haematol , vol.107 , Issue.4 , pp. 699-706
    • Maragoudaki, E.1    Kanavakis, E.2    Traeger-Synodinos, J.3    Vrettou, C.4    Tzettis, M.5
  • 34
    • 0024601868 scopus 로고
    • Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron
    • Eigel A, Schnee J, Oehme R, Horst J. Mutation analysis of β-thalassemia genes in a German family reveals a rare transversion in the first intron. Hum Genet. 1989;81(4):371-372.
    • (1989) Hum Genet , vol.81 , Issue.4 , pp. 371-372
    • Eigel, A.1    Schnee, J.2    Oehme, R.3    Horst, J.4
  • 35
    • 33748927102 scopus 로고    scopus 로고
    • Detection of two rare β-thalassemia alleles found in the Tunisian population: Codon 47 (+A) and codons 106/107 (+G)
    • Bibi A, Messaoud T, Beldjord C, Fattoum S. Detection of two rare β-thalassemia alleles found in the Tunisian population: Codon 47 (+A) and codons 106/107 (+G). Hemoglobin. 2006;30(4):437-447.
    • (2006) Hemoglobin , vol.30 , Issue.4 , pp. 437-447
    • Bibi, A.1    Messaoud, T.2    Beldjord, C.3    Fattoum, S.4
  • 36
    • 0023952325 scopus 로고
    • Delineation of specific β-thalassemia mutations in high-risk areas of Italy: A prerequisite for prenatal diagnosis
    • Piratsu M, Saglio G, Camaschella C, et al. Delineation of specific β-thalassemia mutations in high-risk areas of Italy: A prerequisite for prenatal diagnosis. Blood. 1988;71(4):983-988.
    • (1988) Blood , vol.71 , Issue.4 , pp. 983-988
    • Piratsu, M.1    Saglio, G.2    Camaschella, C.3
  • 37
    • 0023177954 scopus 로고
    • The molecular basis of β-thalassemia in Lebanon: Application to prenatal diagnosis
    • Chehab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW. The molecular basis of β-thalassemia in Lebanon: Application to prenatal diagnosis. Blood. 1987;69(4):1141-1145.
    • (1987) Blood , vol.69 , Issue.4 , pp. 1141-1145
    • Chehab, F.F.1    Der Kaloustian, V.2    Khouri, F.P.3    Deeb, S.S.4    Kan, Y.W.5
  • 38
    • 0029905288 scopus 로고    scopus 로고
    • β-Thalassaemia in indigenous Belgian families: Identification of a novel mutation
    • Heusterspreute M, Derclaye I, Gala JC, et al. β-Thalassaemia in indigenous Belgian families: Identification of a novel mutation. Hum Genet. 1996;98(1):77-79.
    • (1996) Hum Genet , vol.98 , Issue.1 , pp. 77-79
    • Heusterspreute, M.1    Derclaye, I.2    Gala, J.C.3
  • 39
    • 1342302638 scopus 로고    scopus 로고
    • The β-thalassemia mutation/haplotype distribution in the Moroccan population
    • Lemsaddek W, Picanço I, Seuanes F, et al. The β-thalassemia mutation/haplotype distribution in the Moroccan population. Hemoglobin. 2004;28(1):25-37.
    • (2004) Hemoglobin , vol.28 , Issue.1 , pp. 25-37
    • Lemsaddek, W.1    Picanço, I.2    Seuanes, F.3
  • 40
    • 13444267903 scopus 로고    scopus 로고
    • Genetic heterogeneity of β thalassemia in Lebanon reflects historic and recent population migration
    • Makhoul NJ, Wells RS, Kaspar H, et al. Genetic heterogeneity of β thalassemia in Lebanon reflects historic and recent population migration. Ann Hum Genet. 2005;69(1):55-66.
    • (2005) Ann Hum Genet , vol.69 , Issue.1 , pp. 55-66
    • Makhoul, N.J.1    Wells, R.S.2    Kaspar, H.3
  • 44
    • 0021048493 scopus 로고
    • Four new haplotypes observed in Algerian β thalassemia patients
    • Beldjord C, Lapoumeroulie C, Baird ML, et al. Four new haplotypes observed in Algerian β thalassemia patients. Hum Genet. 1983;65(2):204-206.
    • (1983) Hum Genet , vol.65 , Issue.2 , pp. 204-206
    • Beldjord, C.1    Lapoumeroulie, C.2    Baird, M.L.3
  • 45
    • 0242362229 scopus 로고    scopus 로고
    • Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G→A mutation: Role of the β-globin gene haplotype
    • Ragusa A, Amata S, Lombardo T, et al. Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G→A mutation: Role of the β-globin gene haplotype. Haematologica. 2003;88(10):1099-1105.
    • (2003) Haematologica , vol.88 , Issue.10 , pp. 1099-1105
    • Ragusa, A.1    Amata, S.2    Lombardo, T.3
  • 46
    • 0026794728 scopus 로고
    • Molecular screening and fetal diagnosis of β-thalassemia in the Italian population
    • Rosatelli MC, Tuveri T, Scalas MT, et al. Molecular screening and fetal diagnosis of β-thalassemia in the Italian population. Hum Genet. 1992;89(6):585-589.
    • (1992) Hum Genet , vol.89 , Issue.6 , pp. 585-589
    • Rosatelli, M.C.1    Tuveri, T.2    Scalas, M.T.3
  • 47
    • 0026556474 scopus 로고
    • Molecular characterization of β-thalassemia in the Sardinian population
    • Rosatelli MC, Dozy A, Faà V, et al. Molecular characterization of β-thalassemia in the Sardinian population. Am J Hum Genet. 1992;50(2):422-426.
    • (1992) Am J Hum Genet , vol.50 , Issue.2 , pp. 422-426
    • Rosatelli, M.C.1    Dozy, A.2    Faà, V.3
  • 48
    • 0034855133 scopus 로고    scopus 로고
    • The thalassemia syndromes: Molecular characterization in the Spanish population
    • Villegas A, Ropero P, Gonzalez FA, Anguita E, Espinos D. The thalassemia syndromes: Molecular characterization in the Spanish population. Hemoglobin. 2001;25(3):273-283.
    • (2001) Hemoglobin , vol.25 , Issue.3 , pp. 273-283
    • Villegas, A.1    Ropero, P.2    Gonzalez, F.A.3    Anguita, E.4    Espinos, D.5
  • 49
    • 4544319099 scopus 로고    scopus 로고
    • Molecular basis of β-thalassemia in the population of Tunisia
    • Fattoum S, Messaoud T, Bibi A. Molecular basis of β-thalassemia in the population of Tunisia. Hemoglobin. 2004;28(3):177-187.
    • (2004) Hemoglobin , vol.28 , Issue.3 , pp. 177-187
    • Fattoum, S.1    Messaoud, T.2    Bibi, A.3
  • 50
    • 4544255724 scopus 로고    scopus 로고
    • Contribution to the description of the β-thalassemia spectrum in Tunisia and the origin of mutation diversity
    • Chouk I, Ben Daoud B, Mellouli F, et al. Contribution to the description of the β-thalassemia spectrum in Tunisia and the origin of mutation diversity. Hemoglobin. 2004;28(3):189-195.
    • (2004) Hemoglobin , vol.28 , Issue.3 , pp. 189-195
    • Chouk, I.1    Ben Daoud, B.2    Mellouli, F.3
  • 51
    • 2642647057 scopus 로고    scopus 로고
    • Molecular and population genetic analyses of β-thalassemia in Turkey
    • Tadmouri GO, Tüzmen S, Özcelik H, et al. Molecular and population genetic analyses of β-thalassemia in Turkey. Am J Hematol. 1998;57(3):215-220.
    • (1998) Am J Hematol , vol.57 , Issue.3 , pp. 215-220
    • Tadmouri, G.O.1    Tüzmen, S.2    Özcelik, H.3
  • 52
    • 0025220340 scopus 로고
    • Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major
    • Kattamis C, Hu H, Cheng G, et al. Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major. Br J Haematol. 1990;74(3):342-346.
    • (1990) Br J Haematol , vol.74 , Issue.3 , pp. 342-346
    • Kattamis, C.1    Hu, H.2    Cheng, G.3
  • 53
    • 34248190152 scopus 로고    scopus 로고
    • Genotypic correlation between six common β-thalassemia mutations and the XmnI polymorphism in the Moroccan population
    • Agouti I, Badens C, Abouyoub A, et al. Genotypic correlation between six common β-thalassemia mutations and the XmnI polymorphism in the Moroccan population. Hemoglobin. 2007;31(2):141-149.
    • (2007) Hemoglobin , vol.31 , Issue.2 , pp. 141-149
    • Agouti, I.1    Badens, C.2    Abouyoub, A.3
  • 54
    • 0032525885 scopus 로고    scopus 로고
    • Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: Implications for their origin
    • Perrin P, Bouhassa R, Mselli L, et al. Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: Implications for their origin. Gene. 1998;213(1-2):169-177.
    • (1998) Gene , vol.213 , Issue.1-2 , pp. 169-177
    • Perrin, P.1    Bouhassa, R.2    Mselli, L.3
  • 55
    • 0023689331 scopus 로고
    • DNA haplotype distribution in Algerian β thalassaemia patients. An extended evaluation of family studies and representative molecular characterization
    • Rouabhi F, Lapouméroulie C, Amselem S, et al. DNA haplotype distribution in Algerian β thalassaemia patients. An extended evaluation of family studies and representative molecular characterization. Hum Genet. 1988;79(4):373-376.
    • (1988) Hum Genet , vol.79 , Issue.4 , pp. 373-376
    • Rouabhi, F.1    Lapouméroulie, C.2    Amselem, S.3
  • 56
    • 0029738053 scopus 로고    scopus 로고
    • Haplotypic heterogeneity of β-thalassaemia IVS1-1 (G→A) mutation in Southern Portugal
    • Pacheco P, Loureiro P, Faustino P, Lavinha J. Haplotypic heterogeneity of β-thalassaemia IVS1-1 (G→A) mutation in Southern Portugal. Br J Haematol. 1996;94(4):767-769.
    • (1996) Br J Haematol , vol.94 , Issue.4 , pp. 767-769
    • Pacheco, P.1    Loureiro, P.2    Faustino, P.3    Lavinha, J.4
  • 57
    • 8244250127 scopus 로고    scopus 로고
    • Genetic heterogeneity of β-thalassemia in populations of the Iberian Peninsula
    • Ribeiro ML, Gonçalves P, Cunha E, et al. Genetic heterogeneity of β-thalassemia in populations of the Iberian Peninsula. Hemoglobin. 1997;21(3):261-269.
    • (1997) Hemoglobin , vol.21 , Issue.3 , pp. 261-269
    • Ribeiro, M.L.1    Gonçalves, P.2    Cunha, E.3
  • 58
    • 33847012590 scopus 로고    scopus 로고
    • Study of β-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-Beshlawry A. Study of β-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(1):63-69.
    • (2007) Hemoglobin , vol.31 , Issue.1 , pp. 63-69
    • El-Gawhary, S.1    El-Shafie, S.2    Niazi, M.3    Aziz, M.4    El-Beshlawry, A.5
  • 59
    • 0025911028 scopus 로고
    • The spectrum of β thalassemia mutations in Taiwan: Identification of a novel frameshift mutation
    • Lin LI, Lin KS,Lin KH, Chang HC. The spectrum of β thalassemia mutations in Taiwan: identification of a novel frameshift mutation. Am J Hum Genet. 1991;48(4):809-812.
    • (1991) Am J Hum Genet , vol.48 , Issue.4 , pp. 809-812
    • Lin, L.I.1    Lin, K.S.2    Lin, K.H.3    Chang, H.C.4
  • 60
    • 0027396818 scopus 로고
    • Molecular basis and haematological characterization of β-thalassemia major in Taiwan, with a mutation of IVS1 3′ end TAG→GAG in a Chinese patient
    • Chiou SS, Chang TT, Chen PH, Lee SL, Chen TS, Chang JG. Molecular basis and haematological characterization of β-thalassemia major in Taiwan, with a mutation of IVS1 3′ end TAG→GAG in a Chinese patient. Br J Haematol. 1993;83(1):112-117.
    • (1993) Br J Haematol , vol.83 , Issue.1 , pp. 112-117
    • Chiou, S.S.1    Chang, T.T.2    Chen, P.H.3    Lee, S.L.4    Chen, T.S.5    Chang, J.G.6
  • 62
    • 0346881720 scopus 로고    scopus 로고
    • A rare transcription mutation (-90C > T) in a Chinese family with β-thalassemia
    • Li WJ, Lao XW, Jai SQ, et al. A rare transcription mutation (-90C > T) in a Chinese family with β-thalassemia. Zonghua Yie Xue Yi Chuan Xue Za Zhi. 2003;20(6):468-470.
    • (2003) Zonghua Yie Xue Yi Chuan Xue Za Zhi , vol.20 , Issue.6 , pp. 468-470
    • Li, W.J.1    Lao, X.W.2    Jai, S.Q.3
  • 63
    • 34848848420 scopus 로고    scopus 로고
    • Origin of the codon 47 (+A) β-thalassaemia mutation among the Nicobarese of the Andaman and Nicobar islands in India
    • Gorakshakar AC, Das MK, Phanasgaokar SP, Nadkarni AH, Colah RB, Mohanty D. Origin of the codon 47 (+A) β-thalassaemia mutation among the Nicobarese of the Andaman and Nicobar islands in India. Br J Haematol. 2007;139(2):344-346.
    • (2007) Br J Haematol , vol.139 , Issue.2 , pp. 344-346
    • Gorakshakar, A.C.1    Das, M.K.2    Phanasgaokar, S.P.3    Nadkarni, A.H.4    Colah, R.B.5    Mohanty, D.6
  • 64
    • 60749117652 scopus 로고    scopus 로고
    • Gγ de la globine. Relation avec l?expression de l?hémoglobine foetale dans les β thalassémies. Thèse de Magister (1994) USTHB Algiers, Algeria.
    • Gγ de la globine. Relation avec l?expression de l?hémoglobine foetale dans les β thalassémies. Thèse de Magister (1994) USTHB Algiers, Algeria.
  • 65
    • 0012953756 scopus 로고
    • Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites
    • Driscoll MC, Dobkin C, Alter BP. γδbeta; Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA. 1989;86(19):7470-7474.
    • (1989) Proc Natl Acad Sci USA , vol.86 , Issue.19 , pp. 7470-7474
    • Driscoll, M.C.1    Dobkin, C.2    Alter, B.P.3    γδbeta4
  • 66
    • 18244385279 scopus 로고    scopus 로고
    • Mutations in the general transcription factor TFIIH result in β thalassemia in individuals with trichothiodystrophy
    • Viprakasit V, Gibbons RJ, Broughton BC, et al. Mutations in the general transcription factor TFIIH result in β thalassemia in individuals with trichothiodystrophy. Hum Mol Genet. 2001;10(24):2797-2802.
    • (2001) Hum Mol Genet , vol.10 , Issue.24 , pp. 2797-2802
    • Viprakasit, V.1    Gibbons, R.J.2    Broughton, B.C.3
  • 67
    • 0037105495 scopus 로고    scopus 로고
    • X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
    • Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 2000;100(6):2040-2045.
    • (2000) Blood , vol.100 , Issue.6 , pp. 2040-2045
    • Yu, C.1    Niakan, K.K.2    Matsushita, M.3    Stamatoyannopoulos, G.4    Orkin, S.H.5    Raskind, W.H.6
  • 68
    • 0020059234 scopus 로고
    • An update on electrophoretic and chromatographic methods in the diagnosis of hemoglobinopathies
    • Basset P, Braconnier F, Rosa J. An update on electrophoretic and chromatographic methods in the diagnosis of hemoglobinopathies. J Chromatogr. 1982;227(2):267-304.
    • (1982) J Chromatogr , vol.227 , Issue.2 , pp. 267-304
    • Basset, P.1    Braconnier, F.2    Rosa, J.3


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