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Volumn 35, Issue 4, 2011, Pages 316-322

A novel deletion/insertion caused by a replication error in the β-globin gene locus control region

Author keywords

Locus control region ( LCR); ( ) 0 Thalassemia ( ) 0 Thal ; Deletion; Insertion; Multiplex ligation probe amplification (MLPA)

Indexed keywords

BETA GLOBIN; DEOXYRIBONUCLEASE I; HEMOGLOBIN;

EID: 79960992156     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2011.571331     Document Type: Article
Times cited : (8)

References (21)
  • 1
    • 0036839549 scopus 로고    scopus 로고
    • Locus control regions
    • DOI 10.1182/blood-2002-04-1104
    • Li Q, Peterson KR, Fang X, Stamatoyannopoulos G. Locus control regions. Blood. 2002;100(9): 3077-3086. (Pubitemid 35217052)
    • (2002) Blood , vol.100 , Issue.9 , pp. 3077-3086
    • Li, Q.1    Peterson, K.R.2    Fang, X.3    Stamatoyannopoulos, G.4
  • 2
    • 39049092286 scopus 로고    scopus 로고
    • β-globin regulation and long-range interactions
    • Palstra RJ, de Laat W, Grosveld F. β-Globin regulation and long-range interactions. Adv Genet. 2008;61(?):107-142.
    • (2008) Adv. Genet. , vol.61 , pp. 107-142
    • Palstra, R.J.1    De Laat, W.2    Grosveld, F.3
  • 3
    • 84932648232 scopus 로고    scopus 로고
    • The molecular basis of β-thalassemia δβ-thalassemia and hereditary persistence of fetal hemoglobin
    • Steinberg MH Forget BG Higgs DR Weatherall DJ eds Cambridge: Cambridge University Press.
    • Thein SL, Wood WG. The molecular basis of β-thalassemia, δβ-thalassemia, and hereditary persistence of fetal hemoglobin. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2009:323-356.
    • (2009) Disorders of Hemoglobin: Genetics Pathophysiology and Clinical Management , pp. 323-356
    • Thein, S.L.1    Wood, W.G.2
  • 4
    • 0000053102 scopus 로고    scopus 로고
    • The molecular basis of β-thalassemia δβ-thalassemia and hereditary persistence of fetal hemoglobin
    • Steinberg MH Forget BG Higgs DR Nagel RL eds Cambridge: Cambridge University Press
    • Wood WG. The molecular basis of β-thalassemia, δβ- thalassemia, and hereditary persistence of fetal hemoglobin. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2001:356-388.
    • (2001) Disorders of Hemoglobin: Genetics Pathophysiology and Clinical Management , pp. 356-388
    • Wood, W.G.1
  • 7
    • 44849124805 scopus 로고    scopus 로고
    • Detection of a thalassemic α-chain variant (hemoglobin Groene Hart) by reversed-phase liquid chromatography
    • DOI 10.1373/clinchem.2007.097857
    • Zanella-Cleon I, Becchi M, Lacan P, et al. Detection of a thalassemic α-chain variant (Hemoglobin Groene Hart) by reversed phase liquid chromatography. Clin Chem. 2008;54(6):1053-1059. (Pubitemid 351793413)
    • (2008) Clinical Chemistry , vol.54 , Issue.6 , pp. 1053-1059
    • Zanella-Cleon, I.1    Becchi, M.2    Lacan, P.3    Giordano, P.C.4    Wajcman, H.5    Francina, A.6
  • 8
    • 0033983971 scopus 로고    scopus 로고
    • Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
    • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360-362. (Pubitemid 30017265)
    • (2000) Blood , vol.95 , Issue.1 , pp. 360-362
    • Chong, S.S.1    Boehm, C.D.2    Higgs, D.R.3    Cutting, G.R.4
  • 10
    • 0027397913 scopus 로고
    • 3.7 thalassaemia and ααα(anti 3.7) triplication by enzymatic amplification analysis
    • Dod? C, Krishnamoorthy R, Lamb L, Rochette J. Rapid analysis of -α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol. 1992;83(1):105-111. (Pubitemid 23030180)
    • (1993) British Journal of Haematology , vol.83 , Issue.1 , pp. 105-111
    • Dode, C.1    Krishnamoorthy, R.2    Lamb, J.3    Rochette, J.4
  • 11
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and α-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • DOI 10.1136/jmg.2005.033597
    • Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassemia characterized by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922-931. (Pubitemid 41811314)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.12 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    Den Dunnen, J.T.5    White, S.J.6    Giordano, P.C.7
  • 12
    • 68649103720 scopus 로고    scopus 로고
    • Identification and molecular characterization of four new large deletions in the β-globin gene cluster
    • Joly P, Lacan P, Garcia C, Couprie N, Francina A. Identification and molecular characterization of four new large deletions in the β-globin gene cluster. Blood Cells Mol Dis. 2009;43(1):53-57.
    • (2009) Blood Cells Mol. Dis. , vol.43 , Issue.1 , pp. 53-57
    • Joly, P.1    Lacan, P.2    Garcia, C.3    Couprie, N.4    Francina, A.5
  • 13
    • 0026058715 scopus 로고
    • The proximal element of the β globin locus control region is not functionally required in vivo
    • Kulozik AE, Bail S, Bellan-Koch A, et al. The proximal element of the β globin locus control region is not functionally required in vivo. J Clin Invest. 1991;87(6):2142-2146.
    • (1991) J. Clin. Invest. , vol.87 , Issue.6 , pp. 2142-2146
    • Kulozik, A.E.1    Bail, S.2    Bellan-Koch, A.3
  • 14
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • DOI 10.1016/j.cell.2007.11.037, PII S0092867407015413
    • Lee JA, Carvalho CMB, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007;131(7):1235-1247. (Pubitemid 350297419)
    • (2007) Cell , vol.131 , Issue.7 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.B.2    Lupski, J.R.3
  • 15
    • 52949115720 scopus 로고    scopus 로고
    • A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
    • Rugless MJ, Fisher CA, Old JM, et al. A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet. 2008;17(19):3084-3093.
    • (2008) Hum. Mol. Genet. , vol.17 , Issue.19 , pp. 3084-3093
    • Rugless, M.J.1    Fisher, C.A.2    Old, J.M.3
  • 16
    • 69549108056 scopus 로고    scopus 로고
    • Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients
    • Koenig SC, Becirevic E, Hellberg MSC, et al. Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: report of two patients. Am J Hematol. 2009;84(9):603-606.
    • (2009) Am. J Hematol. , vol.84 , Issue.9 , pp. 603-606
    • Koenig, S.C.1    Becirevic, E.2    Hellberg, M.S.C.3
  • 17
    • 66349110893 scopus 로고    scopus 로고
    • A novel ε?δβ0-thalassemia deletion associated with an α globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome
    • Rose C, Rossignol J, Lambilliotte A, et al. A novel (ε? δβ)0-thalassemia deletion associated with an α globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome. Haematologica. 2009;94(4):593-594.
    • (2009) Haematologica , vol.94 , Issue.4 , pp. 593-594
    • Rose, C.1    Rossignol, J.2    Lambilliotte, A.3
  • 18
    • 77952299212 scopus 로고    scopus 로고
    • A novel telomeric approximately 285 kb α-thalassaemia deletion leading to a phenotypically unsual Hb H disease
    • Joly P, Lacan P, Labalme A, et al. A novel telomeric (approximately 285 kb) α-thalassaemia deletion leading to a phenotypically unsual Hb H disease. Haematologica. 2010;95(5):850-851.
    • (2010) Haematologica , vol.95 , Issue.5 , pp. 850-851
    • Joly, P.1    Lacan, P.2    Labalme, A.3
  • 19
    • 70449713562 scopus 로고    scopus 로고
    • The significance of the Hemoglobin A2 value in screening for hemoglobinopathies
    • Giambona A, Passarello C, Renda D, Maggio A. The significance of the Hemoglobin A2 value in screening for hemoglobinopathies. Clin Biochem. 2009;42(18):1786-1796.
    • (2009) Clin. Biochem. , vol.42 , Issue.18 , pp. 1786-1796
    • Giambona, A.1    Passarello, C.2    Renda, D.3    Maggio, A.4
  • 20
    • 77956945064 scopus 로고    scopus 로고
    • Genotype-phenotype relationship of the δ-thalassemia and Hb A2 variants: Observation of 52 genotypes
    • Lacerra G, Scarano C, Lagona LF, et al. Genotype-phenotype relationship of the δ-thalassemia and Hb A2 variants: observation of 52 genotypes. Hemoglobin. 2010;34(5):407-423.
    • (2010) Hemoglobin , vol.34 , Issue.5 , pp. 407-423
    • Lacerra, G.1    Scarano, C.2    Lagona, L.F.3
  • 21
    • 84932611834 scopus 로고    scopus 로고
    • Clinical aspects of β-thalassemia and related disorders
    • SteinbergMH Forget BG Higgs DR Weatherall DJ eds. Cambridge: Cambridge University Press
    • Olivieri NF,Weatherall DJ. Clinical aspects of β-thalassemia and related disorders. In: SteinbergMH, Forget BG, Higgs DR, Weatherall DJ, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2009:357-416.
    • (2009) Disorders of Hemoglobin: Genetics Pathophysiology and Clinical Management , pp. 357-416
    • Olivieri, N.F.1    Weatherall, D.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.