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Volumn 76, Issue 4, 2006, Pages 322-330

Genotypic heterogeneity and correlation to intergenic haplotype within high HbF β-thalassemia intermedia

Author keywords

thalassemia intermedia; Haplotypes; High HbF; Intergenic transcription

Indexed keywords

ALPHA GLOBIN; GAMMA GLOBIN; HEMOGLOBIN F; OLIGONUCLEOTIDE;

EID: 33644835380     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2005.00618.x     Document Type: Article
Times cited : (28)

References (41)
  • 4
    • 0022634643 scopus 로고
    • 0 thalassaemia and a new form of γ globin gene triplication identified in the Ycoslavian population
    • 0 thalassaemia and a new form of γ globin gene triplication identified in the Ycoslavian population Br J Haematol 1986 63 17 28
    • (1986) Br J Haematol , vol.63 , pp. 17-28
    • Efremov, G.D.1    Filipce, V.2    Gjorgovski, I.3    Al, E.4
  • 5
    • 30944436542 scopus 로고
    • Genotype-phenotype correlations in β-thalassaemias
    • C ao A G alanello R R osatelli C Genotype-phenotype correlations in β-thalassaemias Blood Rev 1994 8 1 12
    • (1994) Blood Rev , vol.8 , pp. 1-12
    • Cao, A.1    Galanello, R.2    Rosatelli, C.3
  • 8
    • 0026632437 scopus 로고
    • Genetic epidemiology of β-thalassaemia in Sicily: Do sequences 5′ to the Gγ and 5′ to the β gene interact to enhance HbF expression in β-thalassaemia
    • R agusa A L ombardo M B eldjord C R uberto C L ombardo T E lion J N agel R K rishnamoorthy R Genetic epidemiology of β-thalassaemia in Sicily: do sequences 5′ to the Gγ and 5′ to the β gene interact to enhance HbF expression in β-thalassaemia 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    Nagel, R.7    Krishnamoorthy, R.8
  • 10
    • 85088674083 scopus 로고    scopus 로고
    • Variation of fetal hemoglobin and F-cell number with the LCR-HS2 polymorphism in non-anemic individuals
    • M erghoub T P erichon B R edelsperger MM et al Variation of fetal hemoglobin and F-cell number with the LCR-HS2 polymorphism in non-anemic individuals Blood 1996 83 1673 1682
    • (1996) Blood , vol.83 , pp. 1673-1682
    • Merghoub, T.1    Perichon, B.2    Redelsperger, M.M.3    Al, E.4
  • 11
    • 0026030540 scopus 로고
    • Increased protein binding to a -530 mutation of the human β-globin genes and LCR element HS2 in MEL cells
    • B erg PE M ittelman M E lion J L abie D S chechter AN Increased protein binding to a -530 mutation of the human β-globin genes and LCR element HS2 in MEL cells Am J Hematol 1991 36 42 47
    • (1991) Am J Hematol , vol.36 , pp. 42-47
    • Berg, P.E.1    Mittelman, M.2    Elion, J.3    Labie, D.4    Schechter, A.N.5
  • 12
    • 0026570768 scopus 로고
    • DNA sequence variation in a negative control region 5′ to the beta-globin gene correlates with the phenotypic expression of the beta S mutation
    • E lion J B erg PE L apoumeroulie C T rabuchet G M ittelman M K risnamoorthy R S chechter AN L abie D DNA sequence variation in a negative control region 5′ to the beta-globin gene correlates with the phenotypic expression of the beta S mutation Blood 1992 79 787 792
    • (1992) Blood , vol.79 , pp. 787-792
    • Elion, J.1    Berg, P.E.2    Lapoumeroulie, C.3    Trabuchet, G.4    Mittelman, M.5    Krisnamoorthy, R.6    Schechter, A.N.7    Labie, D.8
  • 13
    • 0028238339 scopus 로고
    • A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease
    • P issard S B ezard Y A potential regulatory region for the expression of fetal hemoglobin in sickle cell disease Blood 1994 84 331 338
    • (1994) Blood , vol.84 , pp. 331-338
    • Pissard, S.1    Bezard, Y.2
  • 14
    • 0033534767 scopus 로고    scopus 로고
    • Localization of cis regulatory elements at the β-globin locus: Analysis of hybrid haplotype chromosomes
    • O fori -A cquah SF L alloz MRA L ayton MD Localization of cis regulatory elements at the β-globin locus: analysis of hybrid haplotype chromosomes Boich Bioph Res Com 1999 254 181 187
    • (1999) Boich Bioph Res Com , vol.254 , pp. 181-187
    • Ofori-Acquah, S.F.1    Lalloz, M.R.A.2    Layton, M.D.3
  • 15
    • 0032535356 scopus 로고    scopus 로고
    • A long terminal repeat of the human endogenous retrovirus ERV-9 is located in the 5′ boundary area of the human β-globin locus control region
    • L ong Q B engra C L i C K ultar F T uan D A long terminal repeat of the human endogenous retrovirus ERV-9 is located in the 5′ boundary area of the human β-globin locus control region Genomics 1998 54 542 555
    • (1998) Genomics , vol.54 , pp. 542-555
    • Long, Q.1    Bengra, C.2    Li, C.3    Kultar, F.4    Tuan, D.5
  • 16
    • 0034811678 scopus 로고    scopus 로고
    • Intergenic transcription in the human β-globin gene cluster
    • P lant K R outledge SJE P roudfoot NJ Intergenic transcription in the human β-globin gene cluster Mol Cell Biol 2001 21 6507 6514
    • (2001) Mol Cell Biol , vol.21 , pp. 6507-6514
    • Plant, K.1    Routledge, S.J.E.2    Proudfoot, N.J.3
  • 17
    • 0042161841 scopus 로고    scopus 로고
    • The ERV-9 LTR enhancer is not blocked by the HS5 insulator and synthesizes through the HS5 site non-coding, long RNAs that regulate LTR enhancer function
    • L ing J P i W Y u X B engra C L ong Q J in H S eyfang A T uan D The ERV-9 LTR enhancer is not blocked by the HS5 insulator and synthesizes through the HS5 site non-coding, long RNAs that regulate LTR enhancer function Nucl Acids Res 2003 31 4582 4595
    • (2003) Nucl Acids Res , vol.31 , pp. 4582-4595
    • Ling, J.1    Pi, W.2    Yu, X.3    Bengra, C.4    Long, Q.5    Jin, H.6    Seyfang, A.7    Tuan, D.8
  • 18
    • 0028065129 scopus 로고
    • Position independence and proper developmental control of gamma-globin gene expression require both a 5′ locus control region and a downstream sequence element
    • L i Q S tamatoyannopoulos G Position independence and proper developmental control of gamma-globin gene expression require both a 5′ locus control region and a downstream sequence element Mol Cell Biol 1994 14 6087 6096
    • (1994) Mol Cell Biol , vol.14 , pp. 6087-6096
    • Li, Q.1    Stamatoyannopoulos, G.2
  • 19
    • 0035210842 scopus 로고    scopus 로고
    • A region upstream of the human δ-globin gene shows a stage-specific interaction with globin promoters in erythroid cell lines
    • V itale M C alzolari R D i M arzo R A cuto S M aggio A A region upstream of the human δ-globin gene shows a stage-specific interaction with globin promoters in erythroid cell lines Bl Cel Mol Dis 2001 27 874 881
    • (2001) Bl Cel Mol Dis , vol.27 , pp. 874-881
    • Vitale, M.1    Calzolari, R.2    Di Marzo, R.3    Acuto, S.4    Maggio, A.5
  • 20
    • 0030826364 scopus 로고    scopus 로고
    • Intergenic transcription and transinduction of the human β-globin locus
    • A she HL M onks J W ijgerde M F raser P P roudfoot NJ Intergenic transcription and transinduction of the human β-globin locus Gen Develop 1997 11 2494 2509
    • (1997) Gen Develop , vol.11 , pp. 2494-2509
    • Ashe, H.L.1    Monks, J.2    Wijgerde, M.3    Fraser, P.4    Proudfoot, N.J.5
  • 21
    • 0033853988 scopus 로고    scopus 로고
    • Intergenic transcription and developmental remodeling of chromatin subdomains in the human β-globin locus
    • G ribnau J D iderich K C alzolari R F raser P Intergenic transcription and developmental remodeling of chromatin subdomains in the human β-globin locus Mol Cell 2000 5 377 386
    • (2000) Mol Cell , vol.5 , pp. 377-386
    • Gribnau, J.1    Diderich, K.2    Calzolari, R.3    Fraser, P.4
  • 22
    • 0037452970 scopus 로고    scopus 로고
    • Sequences in the Aγ-δ intergenic region are not required for stage-specific regulation of the human β-globin gene locus
    • G aensler K Z hang Z L in C Y ang S H ardt K F lebbe -R ehwardt L Sequences in the Aγ-δ intergenic region are not required for stage-specific regulation of the human β-globin gene locus Proc Natl Acad Sci USA 2003 100 3374 3379
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 3374-3379
    • Gaensler, K.1    Zhang, Z.2    Lin, C.3    Yang, S.4    Hardt, K.5    Flebbe-Rehwardt, L.6
  • 23
    • 0025551202 scopus 로고
    • Prenatal diagnosis of thalassemia and sickle cell syndromes in Greece
    • L oukopoulos D H adji A P apadakis M et al. Prenatal diagnosis of thalassemia and sickle cell syndromes in Greece Ann N Y Acad Sci 1990 612 226 236
    • (1990) Ann N Y Acad Sci , vol.612 , pp. 226-236
    • Loukopoulos, D.1    Hadji, A.2    Papadakis, M.3
  • 24
    • 0032964297 scopus 로고    scopus 로고
    • BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences
    • T atusova TA M adden TL BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences FEMS Microbiol Lett 1999 174 247 250
    • (1999) FEMS Microbiol Lett , vol.174 , pp. 247-250
    • Tatusova, T.A.1    Madden, T.L.2
  • 25
    • 0023197416 scopus 로고
    • DNA haplotype heterogeneity of β-thalassaemia in Greece. Feasibility of prenatal diagnosis
    • A thanassiadou A Z arkadis I P apachatzopoulou A M aniatis GM DNA haplotype heterogeneity of β-thalassaemia in Greece. Feasibility of prenatal diagnosis Br J Haematol 1987 66 376 383
    • (1987) Br J Haematol , vol.66 , pp. 376-383
    • Athanassiadou, A.1    Zarkadis, I.2    Papachatzopoulou, A.3    Maniatis, G.M.4
  • 26
    • 0006093907 scopus 로고
    • Self-renewal of hemopoietic stem cells during mixed colony formation in vitro
    • H umphries RK E aves AC E aves CJ Self-renewal of hemopoietic stem cells during mixed colony formation in vitro Pro Natl Acad Sci USA 1981 78 3629 3633
    • (1981) Pro Natl Acad Sci USA , vol.78 , pp. 3629-3633
    • Humphries, R.K.1    Eaves, A.C.2    Eaves, C.J.3
  • 27
    • 0030948047 scopus 로고    scopus 로고
    • Scanning method to identify the molecular heterogeneity of δ-thalassemias: Detection of three novel substitutions in the promoter region of the gene
    • P apadakis M P apapanagiotou E L outradi -A nagnostou A Scanning method to identify the molecular heterogeneity of δ-thalassemias: detection of three novel substitutions in the promoter region of the gene Hum Mutation 1997 9 465 472
    • (1997) Hum Mutation , vol.9 , pp. 465-472
    • Papadakis, M.1    Papapanagiotou, E.2    Loutradi-Anagnostou, A.3
  • 29
    • 0036037061 scopus 로고    scopus 로고
    • The β-globin C to G mutation at the 6 bp 3′ to the termination codon causes β-thalassaemia intermedia by decreasing the mRNA level
    • S gourou A P apachatzopoulou A P siouri L A ntoniou M Z oumbos N G ibbs R A thanassiadou A The β-globin C to G mutation at the 6 bp 3′ to the termination codon causes β-thalassaemia intermedia by decreasing the mRNA level Br J Haematol 2002 118 1 6
    • (2002) Br J Haematol , vol.118 , pp. 1-6
    • Sgourou, A.1    Papachatzopoulou, A.2    Psiouri, L.3    Antoniou, M.4    Zoumbos, N.5    Gibbs, R.6    Athanassiadou, A.7
  • 31
    • 0032824748 scopus 로고    scopus 로고
    • An in vitro system for expression analysis of mutations of the β-globin gene: Validation and application to two mutations in the 5′ UTR
    • H o PJ S loane -S tanley J A thanassiadou A W ood WG T hein SL An in vitro system for expression analysis of mutations of the β-globin gene: validation and application to two mutations in the 5′ UTR Br J Haematol 1999 106 928 947
    • (1999) Br J Haematol , vol.106 , pp. 928-947
    • Ho, P.J.1    Sloane-Stanley, J.2    Athanassiadou, A.3    Wood, W.G.4    Thein, S.L.5
  • 32
    • 20344382303 scopus 로고    scopus 로고
    • Genetic modifiers of β-thalassaemia
    • T hein SL Genetic modifiers of β-thalassaemia Haematologica 2005 90 649 660
    • (2005) Haematologica , vol.90 , pp. 649-660
    • Thein, S.L.1
  • 33
    • 0028366233 scopus 로고
    • Polymorphic pattern of the (AT)x(t)y motif -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassaemia mutations
    • D imovski AJ A dekile AD D ivoky V B aysal E H uisman THJ Polymorphic pattern of the (AT)x(t)y motif -530 5′ to the β-globin gene in over 40 patients homozygous for various β-thalassaemia mutations Am J Hematol 1994 45 51 57
    • (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.J.5
  • 34
    • 0036100973 scopus 로고    scopus 로고
    • Functional role of the four different types of (AT)x(T)y motifs 5′ to the β-globin gene and their distribution in the Greek population
    • K alotychou V K ollia P V oskaridou E P atargias T A nagnou NP L oukopoulos D Functional role of the four different types of (AT)x(T)y motifs 5′ to the β-globin gene and their distribution in the Greek population Blood Cells Mol Dis 2002 28 39 46
    • (2002) Blood Cells Mol Dis , vol.28 , pp. 39-46
    • Kalotychou, V.1    Kollia, P.2    Voskaridou, E.3    Patargias, T.4    Anagnou, N.P.5    Loukopoulos, D.6
  • 35
    • 9044243026 scopus 로고    scopus 로고
    • Partial repression of human γ-globin genes and LCR element HS3 when linked to β-globin genes and LCR element HS2 in MEL cells
    • S toeckert CJ Jr. C heng H Partial repression of human γ-globin genes and LCR element HS3 when linked to β-globin genes and LCR element HS2 in MEL cells Am J Hematol 1996 51 220 228
    • (1996) Am J Hematol , vol.51 , pp. 220-228
    • Stoeckert Jr., C.J.1    Cheng, H.2
  • 36
    • 9144249570 scopus 로고    scopus 로고
    • The LTR enhancer of ERV-9 human endogenous retrovirus is active in oocytes and progenitor cells in transgenic zebrafish and humans
    • P i W Y ang Z W ang J et al The LTR enhancer of ERV-9 human endogenous retrovirus is active in oocytes and progenitor cells in transgenic zebrafish and humans Proc Natl Acad Sci USA 2004 101 805 810
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 805-810
    • Pi, W.1    Yang, Z.2    Wang, J.3    Al, E.4
  • 37
    • 0034746402 scopus 로고    scopus 로고
    • Aγ-haplotypes: A new group of genetic markers for thalassemic mutations inside the 5′ regulatory region of the human Aγ-globin gene
    • P atrinos GP K ollia P P apapanagiotou E L outradi -A nagnostou A L oukopoulos D P apadakis M Aγ-haplotypes: a new group of genetic markers for thalassemic mutations inside the 5′ regulatory region of the human Aγ-globin gene Am J Hematol 2001 66 99 104
    • (2001) Am J Hematol , vol.66 , pp. 99-104
    • Patrinos, G.P.1    Kollia, P.2    Papapanagiotou, E.3    Loutradi-Anagnostou, A.4    Loukopoulos, D.5    Papadakis, M.6
  • 38
    • 0037171655 scopus 로고    scopus 로고
    • Analysis of variation in the human β-globin gene cluster using a novel DHPLC technique
    • W ebster MT W ells RS C legg JB Analysis of variation in the human β-globin gene cluster using a novel DHPLC technique Mutat Res 2002 501 99 103
    • (2002) Mutat Res , vol.501 , pp. 99-103
    • Webster, M.T.1    Wells, R.S.2    Clegg, J.B.3
  • 40
    • 0032959462 scopus 로고    scopus 로고
    • Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of βlCRHS-2 region associated with altered levels of HbF
    • S amakoglu S P hilipsen S G rosveld F L uleci G B agci H Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF Eur J Hum Genet 1999 7 345 356
    • (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
  • 41
    • 0036328606 scopus 로고    scopus 로고
    • Spectrum of β-thalassaemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an eastern Indian population
    • K ukreti R D ash D V ineeth KE C hakravart YS K r D as S D e M T alukder G Spectrum of β-thalassaemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an eastern Indian population Am J Hematol 2002 70 269 277
    • (2002) Am J Hematol , vol.70 , pp. 269-277
    • Kukreti, R.1    Dash, D.2    Vineeth, K.E.3    Chakravart, Y.S.4    Kr Das, S.5    De, M.6    Talukder, G.7


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