메뉴 건너뛰기




Volumn 88, Issue 10, 2003, Pages 1099-1105

Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+IG>A mutation: Role of the β-globin gene haplotype

Author keywords

globin gene cluster polymorphisms; thalassemia mutations; Fetal hemoglobin; Thalassemia intermedia

Indexed keywords

BETA GLOBIN; DNA; HEMOGLOBIN F; MESSENGER RNA;

EID: 0242362229     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (13)

References (48)
  • 1
    • 0035320886 scopus 로고    scopus 로고
    • Phenotype-genotype relationship in monogenic disease: Lessons from the thalassaemias
    • Weatherall DJ. Phenotype-genotype relationship in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2007;2:245-55.
    • (2007) Nat Rev Genet , vol.2 , pp. 245-255
    • Weatherall, D.J.1
  • 2
    • 0000831381 scopus 로고    scopus 로고
    • Hemoglobin switching
    • Stamatoyannompoulos G, Majerus PW, Perlmutter RM, varmus H, editors. Philadelphia, PA: WB Saunders
    • Stamatoyannopoulos G, Grosveld F. Hemoglobin switching. In: Stamatoyannompoulos G, Majerus PW, Perlmutter RM, varmus H, editors. Molecular basis of blood diseases. 3rd edition. Philadelphia, PA: WB Saunders; 2001. p. 135-82.
    • (2001) Molecular Basis of Blood Diseases. 3rd Edition , pp. 135-182
    • Stamatoyannopoulos, G.1    Grosveld, F.2
  • 4
    • 0025612129 scopus 로고
    • Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant
    • Oppenheim A, Yaari A, Rund D, Rachmilewitz EA, Nathan D, Wong C, et al. Intrinsic potential for high fetal hemoglobin production in a Druze family with β-thalassemia is due to an unlinked genetic determinant. Hum Genet 1990;86:175-80.
    • (1990) Hum Genet , vol.86 , pp. 175-180
    • Oppenheim, A.1    Yaari, A.2    Rund, D.3    Rachmilewitz, E.A.4    Nathan, D.5    Wong, C.6
  • 5
    • 0026738025 scopus 로고
    • Molecular genetic studies in black families with sickle cell anaemia and unusually high levels of fetal hemoglobin
    • Seltzer WK, Abshire TC, Lane PA, Roloff JS, Githens JH. Molecular genetic studies in black families with sickle cell anaemia and unusually high levels of fetal hemoglobin. Hemoglobin 1992;16:363-77.
    • (1992) Hemoglobin , vol.16 , pp. 363-377
    • Seltzer, W.K.1    Abshire, T.C.2    Lane, P.A.3    Roloff, J.S.4    Githens, J.H.5
  • 6
    • 0030065604 scopus 로고    scopus 로고
    • Dissecting the loci controlling foetal haemoglobin production on chromosomes 11p and 6q by the regressive approach
    • Craig JE, Rochette J, Fisher CA, Weatherall DJ, Marc S, Lathrop GM, et al. Dissecting the loci controlling foetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet 1996;12:58-64.
    • (1996) Nat Genet , vol.12 , pp. 58-64
    • Craig, J.E.1    Rochette, J.2    Fisher, C.A.3    Weatherall, D.J.4    Marc, S.5    Lathrop, G.M.6
  • 7
    • 0030910834 scopus 로고    scopus 로고
    • Genetic heterogeneity in heterocellular hereditary persistence of foetal hemoglobin
    • Craig JE, Rochette J, Sampietro M, Wilkie AO, Barnetson R, Hatton CS, et al. Genetic heterogeneity in heterocellular hereditary persistence of foetal hemoglobin. Blood 1997; 90:428-34.
    • (1997) Blood , vol.90 , pp. 428-434
    • Craig, J.E.1    Rochette, J.2    Sampietro, M.3    Wilkie, A.O.4    Barnetson, R.5    Hatton, C.S.6
  • 8
    • 0033966370 scopus 로고    scopus 로고
    • Genetic influences on F cells and other hematologic variables: A twin heritability study
    • Garner C, Tatu T, Reittie JE, Littlewood T, Darley J, Cervino S, et al. Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 2000;95:342-6.
    • (2000) Blood , vol.95 , pp. 342-346
    • Garner, C.1    Tatu, T.2    Reittie, J.E.3    Littlewood, T.4    Darley, J.5    Cervino, S.6
  • 9
    • 0036063360 scopus 로고    scopus 로고
    • Foetal haemoglobin in normal healthy adults: Relationship with polymorphic sequences cis to the β globin gene
    • Zertal-Zidani S, Ducrocq R, Sahbatou M, Satta D, Krishnamoorthy R. Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the β globin gene. Eur J Hum Genet 2002;10:320-6.
    • (2002) Eur J Hum Genet , vol.10 , pp. 320-326
    • Zertal-Zidani, S.1    Ducrocq, R.2    Sahbatou, M.3    Satta, D.4    Krishnamoorthy, R.5
  • 12
    • 0024320039 scopus 로고
    • Nucleotide variations in the 3′ Ag enhancer region are linked to β-gene cluster and are unrelated to foetal hemoglobin expression
    • Ragusa A, Lombardo M, Bouhassira E, Beldjord C, Lombardo T, Nagel RL, et al. Nucleotide variations in the 3′ Ag enhancer region are linked to β-gene cluster and are unrelated to foetal hemoglobin expression. Am J Hum Genet 1989;45:106-11.
    • (1989) Am J Hum Genet , vol.45 , pp. 106-111
    • Ragusa, A.1    Lombardo, M.2    Bouhassira, E.3    Beldjord, C.4    Lombardo, T.5    Nagel, R.L.6
  • 13
    • 0026632437 scopus 로고
    • Genetic epidemiology of β-thalassemia in Sicily: Do sequences 5′ to the Gγ-gene and β-gene interact to enhance Hb F expression in β-thalassemia?
    • Ragusa A, Lombardo M, Beldjord C, Ruberto C, Lombardo T, Elion J, et al. Genetic epidemiology of β-thalassemia in Sicily: do sequences 5′ to the Gγ-gene and β-gene interact to enhance Hb F expression in β-thalassemia? Am J Hematol 1992;40:199-206.
    • (1992) Am J Hematol , vol.40 , pp. 199-206
    • Ragusa, A.1    Lombardo, M.2    Beldjord, C.3    Ruberto, C.4    Lombardo, T.5    Elion, J.6
  • 15
    • 0027305601 scopus 로고
    • Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients
    • Perichon B, Ragusa A, Lapoumeroulie C, Romand A, Moi P, Ikuta T, et al. Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients. Hum Genet 1993;91:464-8.
    • (1993) Hum Genet , vol.91 , pp. 464-468
    • Perichon, B.1    Ragusa, A.2    Lapoumeroulie, C.3    Romand, A.4    Moi, P.5    Ikuta, T.6
  • 16
    • 0033009106 scopus 로고    scopus 로고
    • Genetic variations in human fetal globin gene microsatellites and their functional relevance
    • Lapoumeroulie C, Castiglia L, Ruberto C, Fichera M, Amata S, Labie D, et al. Genetic variations in human fetal globin gene microsatellites and their functional relevance. Hum Genet 1999;104:307-14.
    • (1999) Hum Genet , vol.104 , pp. 307-314
    • Lapoumeroulie, C.1    Castiglia, L.2    Ruberto, C.3    Fichera, M.4    Amata, S.5    Labie, D.6
  • 17
    • 0000053102 scopus 로고    scopus 로고
    • Hereditary persistence of foetal haemoglobin and δβ -thalassemia
    • Steinberg MH, Forget BG, Higgs DR, Nagel RL, Editors. Cambridge University Press, Cambridge
    • Wood WG. Hereditary persistence of foetal haemoglobin and δβ-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, Editors. Disorders of haemoglobin genetics, pathophysiology, and clinical management. Cambridge University Press, Cambridge 2001; p. 356-88.
    • (2001) Disorders of Haemoglobin Genetics, Pathophysiology, and Clinical Management , pp. 356-388
    • Wood, W.G.1
  • 18
    • 0026708201 scopus 로고
    • Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2
    • Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, et al. Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood 1992;80:816-24.
    • (1992) Blood , vol.80 , pp. 816-824
    • Dover, G.J.1    Smith, K.D.2    Chang, Y.C.3    Purvis, S.4    Mays, A.5    Meyers, D.A.6
  • 19
    • 0036181252 scopus 로고    scopus 로고
    • Evidence of genetic interaction between the β-globin complex and chromosome 8q in the expression of foetal haemoglobin
    • Garner CP, Tatu T, Best S, Creary L, Thein SL. Evidence of genetic interaction between the β-globin complex and chromosome 8q in the expression of foetal haemoglobin. Am J Hum Genet 2002;70:793-9.
    • (2002) Am J Hum Genet , vol.70 , pp. 793-799
    • Garner, C.P.1    Tatu, T.2    Best, S.3    Creary, L.4    Thein, S.L.5
  • 20
    • 0022006714 scopus 로고
    • DNA sequence variation associated with elevated foetal Gγ-globin production
    • Gilman JG, Huisman THJ. DNA sequence variation associated with elevated foetal Gγ-globin production. Blood 1985; 66:783-7.
    • (1985) Blood , vol.66 , pp. 783-787
    • Gilman, J.G.1    Huisman, T.H.J.2
  • 23
    • 0026557081 scopus 로고
    • Variation of Hb F and F-cell number with the Gg(Xmnl (C→T) polymorphisms in normal individuals
    • Sampietro M, Thein SL, Contreras M, Pazmany L. Variation of Hb F and F-cell number with the Gg(Xmnl (C→T) polymorphisms in normal individuals. Blood 1992;79:832-3.
    • (1992) Blood , vol.79 , pp. 832-833
    • Sampietro, M.1    Thein, S.L.2    Contreras, M.3    Pazmany, L.4
  • 24
    • 0031023806 scopus 로고    scopus 로고
    • Association of -158(C→T) (Xmnl) DNA polymorphism in Gγ-globin promoter with delayed switchover from foetal to adult haemoglobin synthesis
    • Peri KG, Gagnon J, Gagnon C, Bard H. Association of -158(C→T) (Xmnl) DNA polymorphism in Gγ-globin promoter with delayed switchover from foetal to adult haemoglobin synthesis. Pediatr Res 1997;41:214-7.
    • (1997) Pediatr Res , vol.41 , pp. 214-217
    • Peri, K.G.1    Gagnon, J.2    Gagnon, C.3    Bard, H.4
  • 25
    • 0034908416 scopus 로고    scopus 로고
    • 0-thalassemia in an African-American family: Association of high fetal haemoglobin levels with β-thalassemia alleles
    • 0-thalassemia in an African-American family: association of high fetal haemoglobin levels with β-thalassemia alleles. Am J Hematol 2001;68:43-50
    • (2001) Am J Hematol , vol.68 , pp. 43-50
    • Divoky, V.1    Mrug, M.2    Thornley-Brown, D.3    Divoka, M.4    Prchal, J.T.5
  • 27
    • 0028366233 scopus 로고
    • Polymorphic pattern of the (AT)X(T)Y motif at -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassemia mutations
    • Dimovski AJ, Adekile AD, Divoky V, Baysal E, Huisman TH. Polymorphic pattern of the (AT)X(T)Y motif at -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassemia mutations. Am J Hematol 1994;45:51-7
    • (1994) Am J Hematol , vol.45 , pp. 51-57
    • Dimovski, A.J.1    Adekile, A.D.2    Divoky, V.3    Baysal, E.4    Huisman, T.H.5
  • 31
    • 0035880416 scopus 로고    scopus 로고
    • Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite
    • Albanese V, Biguet NF, Kiefer H, Bayard E, Mallet J, Meloni R. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet 2001; 10:1785-92.
    • (2001) Hum Mol Genet , vol.10 , pp. 1785-1792
    • Albanese, V.1    Biguet, N.F.2    Kiefer, H.3    Bayard, E.4    Mallet, J.5    Meloni, R.6
  • 32
    • 0033845174 scopus 로고    scopus 로고
    • Involvement of Sp1 and microsatellite repressor sequences in the transcriptional control of the human CD30 gene
    • Croager EJ, Gout AM, Abraham U. Involvement of Sp1 and microsatellite repressor sequences in the transcriptional control of the human CD30 gene. Am J Pathol 2000;156: 1723-31.
    • (2000) Am J Pathol , vol.156 , pp. 1723-1731
    • Croager, E.J.1    Gout, A.M.2    Abraham, U.3
  • 33
    • 0031081111 scopus 로고    scopus 로고
    • Simple sequence repeats as a source of quantitative genetic variation
    • Kashi Y, King D, Soller M. Simple sequence repeats as a source of quantitative genetic variation. Trends Genet 1997;13:74-8.
    • (1997) Trends Genet , vol.13 , pp. 74-78
    • Kashi, Y.1    King, D.2    Soller, M.3
  • 35
    • 0026570768 scopus 로고
    • DNA sequence variation in a negative control region 5′ to the β-globin gene correlates with phenotypic expression of the βS mutation
    • Elion J, Berg PE, Lapoumeroulie C, Trabuchet G, Mittelman M, Krishnamoorthy R, et al. DNA sequence variation in a negative control region 5′ to the β-globin gene correlates with phenotypic expression of the βS mutation. Blood 1992;79: 787-92.
    • (1992) Blood , vol.79 , pp. 787-792
    • Elion, J.1    Berg, P.E.2    Lapoumeroulie, C.3    Trabuchet, G.4    Mittelman, M.5    Krishnamoorthy, R.6
  • 37
    • 0025365230 scopus 로고
    • Detailed analysis of the site 3′ region of the human β-globin dominant control region
    • Talbot D, Philipsen S, Fraser P, Grosveld F. Detailed analysis of the site 3′ region of the human β-globin dominant control region. EMBO J 1990;9:2169-78.
    • (1990) EMBO J , vol.9 , pp. 2169-2178
    • Talbot, D.1    Philipsen, S.2    Fraser, P.3    Grosveld, F.4
  • 38
    • 0026665430 scopus 로고
    • Black β-thalassemia homozygotes with specific sequence variations in the 5′ hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin
    • Beris P, Kitundu MN, Baysal E, Oner C, Lanclos KD, Dimovski AJ, et al. Black β-thalassemia homozygotes with specific sequence variations in the 5′ hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. Am J Hematol 1992;41:97-101.
    • (1992) Am J Hematol , vol.41 , pp. 97-101
    • Beris, P.1    Kitundu, M.N.2    Baysal, E.3    Oner, C.4    Lanclos, K.D.5    Dimovski, A.J.6
  • 40
    • 0029979388 scopus 로고    scopus 로고
    • Variation of foetal haemoglobin and F-cell number with the LCR-HS2 polymorphisms in non-anemic individuals
    • Merghoub T, Maier-Redelsperger M, Labie D, Perichon B, Feingold N, Dibenedetto SP, et al. Variation of foetal haemoglobin and F-cell number with the LCR-HS2 polymorphisms in non-anemic individuals. Blood 1996;87:2607-9.
    • (1996) Blood , vol.87 , pp. 2607-2609
    • Merghoub, T.1    Maier-Redelsperger, M.2    Labie, D.3    Perichon, B.4    Feingold, N.5    Dibenedetto, S.P.6
  • 41
    • 0031451825 scopus 로고    scopus 로고
    • Dissection of the association status of two polymorphisms in the β-globin gene cluster with variations in F-cell number in non-anemic individuals
    • Merghoub T, Perichon B, Maier-Redelsperger M, Dibenedetto SP, Samperi P, Ducrocq R, et al. Dissection of the association status of two polymorphisms in the β-globin gene cluster with variations in F-cell number in non-anemic individuals. Am J Hematol 1997;56:239-43.
    • (1997) Am J Hematol , vol.56 , pp. 239-243
    • Merghoub, T.1    Perichon, B.2    Maier-Redelsperger, M.3    Dibenedetto, S.P.4    Samperi, P.5    Ducrocq, R.6
  • 42
    • 0032959462 scopus 로고    scopus 로고
    • Nucleotide changes in the 7-globin promoter and the (AT)xNy(AT)z polymorphic sequence of the β-LCRHS-2 region associated with altered levels of Hb F
    • Samakoglu S, Philipsen S, Grosveld F, Luleci G, Bagci H. Nucleotide changes in the 7-globin promoter and the (AT)xNy(AT)z polymorphic sequence of the β-LCRHS-2 region associated with altered levels of Hb F. Eur J Hum Genet 1999; 7:345-56.
    • (1999) Eur J Hum Genet , vol.7 , pp. 345-356
    • Samakoglu, S.1    Philipsen, S.2    Grosveld, F.3    Luleci, G.4    Bagci, H.5
  • 44
    • 0023275919 scopus 로고
    • Fetal hemoglobin-containing cells have the same mean corpuscular hemoglobin as cells without fetal hemoglobin; a reciprocal relationship between γ and β-globin gene expression in normal subjects and in those with high fetal hemoglobin production
    • Dover GJ, Boyer SH. Fetal hemoglobin-containing cells have the same mean corpuscular hemoglobin as cells without fetal hemoglobin; a reciprocal relationship between γ and β-globin gene expression in normal subjects and in those with high fetal hemoglobin production. Blood 1987;69: 1109-13.
    • (1987) Blood , vol.69 , pp. 1109-1113
    • Dover, G.J.1    Boyer, S.H.2
  • 45
    • 0027496417 scopus 로고
    • Enhanced foetal haemoglobin production by phenylacetate and 4-phenylbutyrate in erythroid precursors derived from normal donors and patients with sickle cell anemia and β-thalassemia
    • Fibach E, Prasanna P, Rodgers GP, Samid D. Enhanced foetal haemoglobin production by phenylacetate and 4-phenylbutyrate in erythroid precursors derived from normal donors and patients with sickle cell anemia and β-thalassemia. Blood 1993;82:2203-9.
    • (1993) Blood , vol.82 , pp. 2203-2209
    • Fibach, E.1    Prasanna, P.2    Rodgers, G.P.3    Samid, D.4
  • 46
    • 0028207315 scopus 로고
    • Chromatin domains as potential units of eukaryotic gene function
    • Dillon N, Grosveld F. Chromatin domains as potential units of eukaryotic gene function. Curr Opin Genet Dev 1994;4: 260-4.
    • (1994) Curr Opin Genet Dev , vol.4 , pp. 260-264
    • Dillon, N.1    Grosveld, F.2
  • 47
    • 0038243168 scopus 로고    scopus 로고
    • The role of DNA methylation in setting up chromatin structure during development
    • Hashimshomy T, Zhang J, Keshet I, Bustin M, Cedar H. The role of DNA methylation in setting up chromatin structure during development. Nat Gen 2003;33:187-92.
    • (2003) Nat Gen , vol.33 , pp. 187-192
    • Hashimshomy, T.1    Zhang, J.2    Keshet, I.3    Bustin, M.4    Cedar, H.5
  • 48
    • 0038350652 scopus 로고    scopus 로고
    • Transcriptional derepression as a cause of genetic diseases
    • Gabellini D, Tupler R, Green MR. Transcriptional derepression as a cause of genetic diseases. Curr Op Genet Dev 2003; 13:239-45.
    • (2003) Curr Op Genet Dev , vol.13 , pp. 239-245
    • Gabellini, D.1    Tupler, R.2    Green, M.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.