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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 1
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Original

Developmental Effect of the XmnI Site on Gγ-Globin Gene Expression Among Newborn Hb F-Malta-I [Gγ117(G19)His→Arg, CAT→CGT] Heterozygotes and Adult β+-Thalassemia Homozygotes

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Pages 71-82 | Received 04 Apr 2006, Accepted 19 Jul 2006, Published online: 07 Jul 2009

REFERENCES

  • Rutland PC, Pembrey ME, Davies T. The estimation of fetal haemoglobin in healthy adults by radioimmunoassay. Br J Haematol 1983; 53(4)673–682
  • Lu ZH, Steinberg MH. Fetal hemoglobin in sickle cell anemia: relation to regulatory sequences cis to the β-globin gene. Multicenter Study of Hydroxyurea. Blood 1996; 87(4)1604–1611
  • Thein SL, Sampietro M, Rohde K, Rochette J, Weatherall DJ, Lathrop GM, Demenais F. Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet 1994; 54(2)214–228
  • Garner C, Menzel S, Martin C, Silver N, best S, Spector TD, Thein SL. Interaction between two quantitative trait loci affects fetal hemoglobin expression. Ann Hum Genet 2005; 69(Pt 6)707–714
  • Craig JE, Rochette J, Fisher CA, Weatherall DJ, Marc S, Lathrop GM, Demenais F, Thein SL. Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet 1996; 12(1)58–64
  • Dover GJ, Smith KD, Chang YC, Purvis S, Mays A, Meyers DA, Sheils C, Serjeant G. 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(3)816–824
  • deBoer E, Antoniou M, Mignotte V, Wall L, Grosveld F. The human β-globin promoter; nuclear protein factors and erythroid specific induction of transcription. EMBO J 1988; 7(13)4203–4212
  • Yu CY, Chen J, Lin LI, Tam M, Shen CK. Cell type-specific protein-DNA interactions in the human ζ-globin upstream promoter region: displacement of Sp1 by the erythroid cell- specific factor NF-E1. Mol Cell Biol 1990; 10(1)282–294
  • Gong QH, Stern J, Dean A. Transcriptional role of a conserved GATA-1 site in the human ∈-globin gene promoter. Mol Cell Biol 1991; 11(5)2558–2566
  • Gumucio DL, Rood KL, Blanchard-McQuate KL, Gray TA, Saulino A, Collins FS. Interaction of Sp1 with the human γ globin promoter: binding and transactivation of normal and mutant promoters. Blood 1991; 78(7)1853–1863
  • Zago MA, Silva WA, Jr, Dalle B, Gualandro S, Hutz MH, Lapoumeroulie C, Tavella MH, Araujo AG, Krieger JE, Elion J, Krishnamoorthy R. Atypical βS haplotypes are generated by diverse genetic mechanisms. Am J Hematol 2000; 63(2)79–84
  • O'Neill D, Bornschlegel K, Flamm M, Castle M, Bank A. A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human δ-globin gene. Proc Natl Acad Sci USA 1991; 88(20)8953–8957
  • Gilman JG, Huisman THJ. DNA sequence variation associated with elevated fetal Gγ globin production. Blood 1985; 66(4)783–787
  • Gelinas RE, Rixon M, Magis W, Stamatoyannopoulos G. Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin. Blood 1988; 71(4)1108–1112
  • Hattori Y, Kutlar F, Kutlar A, McKie VC, Huisman THJ. Haplotypes of βS chromosomes among patients with sickle cell anemia from Georgia. Hemoglobin 1986; 10(6)623–642
  • Ballas SK, Talacki CA, Adachi K, Schwartz E, Surrey S, Rappaport E. The Xmn I site (−158, C→T) 5′ to the Gγ gene: correlation with the Senegalese haplotype and Gγ globin expression. Hemoglobin 1991; 15(5)393–405
  • Schroeder WA, Powars DR, Kay LM, Chan LS, Huynh V, Shelton JB, Shelton JR. β-Cluster haplotypes, α-gene status, and hematological data from SS, SC, and S-β-thalassemia patients in southern California. Hemoglobin 1989; 13(4)325–353
  • Huisman THJ, Schroeder WA, Felice A, Powars D, Ringelhann B. Anomaly in the γ chain heterogeneity of the newborn. Nature 1977; 265(5589)63–65
  • Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu HY, Huisman THJ. The linkage of Hb Valletta [α2β287(F3)Thr→Pro] and Hb F-Malta-I [α2Gγ2117 (G19)His→Arg] in the Maltese population. Hum Genet 1991; 86(6)591–594
  • Cauchi MN, Clegg JB, Weatherall DJ. Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants. Nature 1969; 223(203)311–313
  • Felice AE. Haemoglobin Abnormalities in the Maltese. University of Malta, MsidaMalta 1975, M Phil Thesis
  • Abraham EC, Reese A, Stallings M, Garver FA, Huisman THJ. An improved chromatographic procedure for quantitation of human fetal hemoglobin. Hemoglobin 1977; 1(6)547–560
  • Abraham EC, Reese A, Stallings M, Huisman THJ. Separation of human hemoglobins by DEAE-cellulose chromatography using glycine-KCN-NaC1 developers. Hemoglobin 1976; 1(1)27–44
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3)1215
  • Orkin SH, Little PF, Kazazian HH, Jr, Boehm CD. Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. N Engl J Med 1982; 307(1)32–36
  • Pirastu M, Galanello R, Doherty MA, Tuveri T, Cao A, Kan YW. The same β-globin gene mutation is present on nine different β-thalassemia chromosomes in a Sardinian population. Proc Natl Acad Sci USA 1987; 84(9)2882–2885
  • Huisman THJ, Kutlar F, Gu L-H. γ-Chain abnormalities and γ-globin gene rearrangements in newborn babies of various populations. Hemoglobin 1991; 15(5)349–379
  • Huisman THJ, Kutlar F, Nakatsuji T, Bruce-Tagoe A, Kilinç Y, Cauchi MN, Romero Garcia C. The frequency of the γ chain variant AγT in different populations, and its use in evaluating γ gene expression in association with thalassemia. Hum Genet 1985; 71(2)127–133
  • http://globin.cse.psu.edu, Hardison RC, Chui DHK, Riemer C, Giardine B, Lehväslaiho H, Wajcman H, Miller W. Databases of human hemoglobin variants and other resources at the globin gene server. Hemoglobin 2001; 25(2)183–193
  • Jeffreys AJ, Neumann R, Panayi M, Myers S, Donnelly P. Human recombination hot spots hidden in regions of strong marker association. Nat Genet 2005; 37(6)601–606
  • Scerri CA, Abela W, Galdies R, Pizzuto M, Grech JL, Felice AE. The β+ IVS-I-6 (T→C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta. Br J Haematol 1993; 83(4)669–671
  • Marwan MM, Scerri CA, Zarroag SO, Cao A, Kyrri A, Kalogirou E, Kleanthous M, Ioannou P, Angastiniotis M, Felice AE. Comparative in vivo expression of β+-thalassemia alleles. Hemoglobin 1999; 23(3)221–229
  • Camaschella C, Serra A, Saglio G, Bertero MT, Mazza U, Terzoli S, Brambati B, Cremonesi L, Travi M, Ferrari M. Meiotic recombination in the β globin gene cluster causing an error in prenatal diagnosis of β thalassemia. J Med Genet 1988; 25(5)307–310
  • Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH. Nonuniform recombination within the human β-globin gene cluster. Am J Hum Genet 1984; 36(6)1239–1258
  • Huisman THJ, Reese AL, Gardiner MB, Wilson JB, Lam H, Reynolds A, Nagle S, Trowell P, Zeng YT, Huang SZ, Sukumaran PK, Miwa S, Efremov GD, Petkov G, Sciarratta GV, Sansone G. The occurrence of different levels of Gγ chain and of the AγT variant of fetal hemoglobin in newborn babies from several countries. Am J Hematol 1983; 14(2)133–148
  • Gilman JG, Harano T, Nakatsuji T, Bakioglu I, Beese AL, Gardiner MB, Huisman THJ. The ratio of the Gγ and Aγ chain variations due to anomalies at the molecular level. Ann NY Acad Sci 1985; 445: 235–247
  • Scerri C. Clinical and Molecular Pathology of the β+IVS1–6 Thalassaemia in Malta. University of Malta, MsidaMalta 1998, Ph.D. Thesis
  • Capelli C, Redhead N, Romano V, Cali F, Lefranc G, Delague V, Megarbane A, Felice AE, Pascali VL, Neophytou PI, Poulli Z, Novelletto A, Malaspina P, Terrenato L, Berebbi A, Fellous M, Thomas MG, Goldstein DB. Population structure in the Mediterranean Basin: a Y chromosome perspective. Ann Hum Genet 2006; 79(Pt 2)207–225
  • Josifova DJ, Scerri CA, Vassallo N, Buhagiar S, Bezzina Wettinger S, Pulis S, Farrugia R, Attard-Montalto S, Parascandolo R, Felice AE. Significance of epidemiology in a small island population. J Commun Genet 2007, in press
  • Lolis D, Georgiou I, Loizou P, Makrydimas G. High Hb F in pregnancy is associated with the Xmn I polymorphism at the −158 bp of the Gγ-globin gene. Eur J Obstet Gynecol Reprod Biol 1995; 60(2)153–156

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