Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 23, 1999 - Issue 2
33
Views
12
CrossRef citations to date
0
Altmetric
Original Article

A novel C→A transversion within the distal CCAAT motif of the Gγ-globin gene in the algerian Gγβ+-hereditary persistence of fetal hemoglobin

, , , , &
Pages 159-169 | Received 14 Sep 1998, Accepted 22 Dec 1998, Published online: 05 Aug 2009

References

  • Stamatoyannopoulos G., Nienhuis A. W. Hemoglobin switching. The Molecular Basis of Blood Diseases, G. Stamatoyannopoulos, A. W. Nienhuis, P. W. Majerus, H. Varmus. W. B. Saunders Company, Philadelphia, PAUSA 1994; 107–136
  • Craig J. E., Rochette J., Fisher C. A., Weatherall D. J., Marc S., Lathrop G. M., Demenais F., Thein S. Dissecting the loci controlling fetal haemoglobin production on chromosome 11 p and 6 q by the regressive approach. Nature Genet. 1996; 12: 58–64
  • Thein S. L., Sampietro M., Rohde K., Rochette J., Weatherall D. J., Lathrop G. M., 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: 214–228
  • Collins F. S., Stoeckert C. J., Serjeant G. R., Forget B. G., Weismann S. M. Gγβ+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5′ to the Gγ gene. Proc. Natl. Acad. Sci. USA 1984; 81: 4894–4898
  • Costa F., Zago M., Cheng G., Nechtman J., Stoming T., Huisman T. H. J. The Brazilian type of nondeletional Aγ‐fetal hemoglobin has a C→G substitution at nucleotide ‐195 of the Aγ‐globin gene. Blood 1990; 76: 1896–1897
  • Giglioni B., Casini C., Mantovani R., Merli S., Comi P., Ottolenghi S., Saglio G., Camaschella C., Mazza U. A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and β‐thalassemia. The EMBO J. 1984; 3: 2641–2645
  • Tate V. E., Wood W. G., Weatherall D. J. The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 nuclease hypersensitive site 5′ to the Aγ globin gene. Blood 1986; 68: 1389–1393
  • Gilman J. G., Mishima N., Wen X. J., Kutlar F., Huisman T. H. J. Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human. Blood 1988; 72: 78–81
  • Berry M., Grosveld F., Dillon N. A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin. Nature 1992; 358: 499–502
  • Fucharoen S., Shimizu K., Fukumaki Y. A novel C→T transition within the distal CCA AT motif of the Gγ ‐globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. Nucleic Acids Res. 1990; 18: 5245–5253
  • Motum P. I., Deng Z. M., Huong L., Trent R. J. The Australian type of nondeletional Gγ‐HPFH has a C→G substitution at nucleotide ‐114 of the Gγ gene. Br. J. Haematol. 1994; 86: 219–221
  • Öner R., Kutlar F., Gu L., Huisman T. H. J. The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C→T mutation at nucleotide‐114 of the Gγ‐globin gene. Blood 1991; 77: 1124–1125
  • Pissard S., M'rad A., Beuzard Y., Romeo P. H. A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia β+ (+C ‐200) Gγ. Br. J. Haematol. 1996; 95: 67–72
  • Tan G., Aw T., Dunstan R., Lee S. Evaluation of high performance liquid chromatography for routine estimation of Haemoglobins A2 and F. J. Clin. Pathol. 1993; 46: 852–856
  • Shelton J. B., Shelton J. R., Schroeder W. A. High performance liquid chromatographic separation of globin chains on a large‐pore C4 column. J. Liq. Chromatogr. 1984; 7: 1969–1977
  • Maggio A., Giambona A., Cai S., Wall J., Kan Y., Chehab F. Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C, and seven Mediterranean β‐thalassemia mutations by covalent reverse dot‐blot analysis: application to prenatal diagnosis in Sicily. Blood 1993; 81: 239–242
  • Ghanem N., Girodon E., Vidaud M., Martin J., Fanen P., Plassa F., Goossens M. A comprehensive scanning method for rapid detection of β‐globin gene mutations and polymorphisms. Hum. Mut. 1992; 1: 229–239
  • Dodé C., Krishnamoorthy R., Lamb J., Rochette J. Rapid analysis of‐α 3,7 thalassemia and ααα anti 3,7 triplication by enzymatic amplification analysis. Br. J. Haematol. 1992; 82: 105–111
  • Sutton M., Bouhassira E., Nagel R. L. Polymerase chain reaction amplification applied to the determination of β‐like globin gene cluster haplotypes. Am. J. Hematol. 1989; 33: 66–69
  • Orkin S. H., Kazazian H. H., Jr., Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J. V. Linkage of β‐thalassemia mutations and β‐globin gene polymorphisms with DNA polymorphisms in human β‐globin gene cluster. Nature 1982; 296: 627–631
  • Benanni C., Bouhass R., Perrin‐Pecontal P., Tamouza R., Malou M., Elion J., Trabuchet G., Beldjord C., Benabadji M., Labie D. Anthropological approach to the heterogeneity of β‐thalassemia mutations in Northern Africa. Hum. Biol. 1994; 66: 369–382
  • Beldjord C., Ducrocq R., Nadifi S., Lapouméroulie C., Elion J., Labie D. A haplotype‐linked four base deletion upstream of the Aγ globin gene coincides with decreased gene expression. Hum. Genet. 1992; 89: 625–628
  • Wainscoat J. S., Kulozik A. E., Ramsay M., Falusi A. G., Weatherall D. J. A Taq 1 γ globin DNA polymorphism: an African‐specific marker. Hum. Genet. 1986; 74: 90–92
  • Wood W. G. Increased Hb F in adult life. The Haemoglobinopathies, D. R. Higgs, D. J. Weatherall. Churchill Livingstone, London 1993; 117–213
  • Gilman J. G., Huisman T. H. J. DNA sequence variation associated with elevated Gγ globin production. Blood 1985; 66: 783–787
  • Labie D., Dunda‐Belkhodja O., Rouabhi F., Pagnier J., Ragusa A., Nagel R. L. The ‐158 site 5′to the Gγ and Gγ gene expression. Blood 1985; 66: 1463–1465
  • Sampietro M., Thein S. L., Contreras M., Pazmany L. Variation on Hb F and F‐cell number with the XmnI (C→T) polymorphism in normal individuals. Blood 1992; 79: 832–833
  • Ronchi A. E., Berry M., Raguz S., Imam A., Yannoutsos N., Ottolenghi S., Grosveld F., Dillon N. Role of the duplicated CCAAT box region in γ‐globin gene regulation and hereditary persistence of fetal haemoglobin. The EMBO J. 1996; 15: 143–149
  • Ronchi A. E., Bottardi S., Mazzucchelli C., Ottolenghi S., Santoro C. Differential binding of the NFE 3 and CP1/NFY transcription factors to human γ and →‐globin CCAAT boxes. J. Biol. Chem 1995; 270: 21934–21941
  • Higgs D. R., Vickers M. A., Wilkie A. O. M., Pretorius I. M., Jarman A. P., Weatherall D. J. A review of the molecular genetics of the human a globin gene cluster. Blood 1989; 73: 1081–1104

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.