Combined effect of two different polymorphic sequences within the β globin gene cluster on the level of HbF

American Journal of Hematology

Volumn 57, Issue 4, 1998, Pages 269-276

  Gonçalves, Isabel ^a   Ducrocq, Rolande ^b   Lavinha, João ^c   Nogueira, Paulo J ^c   Peres, M João ^c   Picanço, Isabel ^c   Correia Jr , Esmeraldina ^d   Reis, Ana Batalha ^d   Silva, Candido ^d   Krishnamoorthy, Rajagopal ^b   Almeida, Leonor Osório ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^d HOSPITAL DE SANTA CRUZ   (Portugal)

Author keywords

globin gene cluster; Expression; HbF; Polymorphisms

Indexed keywords

BETA GLOBIN; CYTOSINE; DNA; HEMOGLOBIN F; THYMINE;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; CHILD; CLINICAL ARTICLE; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENE CLUSTER; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HEMOGLOBINOPATHY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ALLELES; BETA-THALASSEMIA; CHILD, PRESCHOOL; FEMALE; FETAL HEMOGLOBIN; GENE EXPRESSION REGULATION; GLOBINS; HAPLOTYPES; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 2642595049     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199804)57:4<269::AID-AJH1>3.0.CO;2-S     Document Type: Article

References (35)

1. Gilman JG, Huisman THJ: Two independent genetic factors in the β-globin gene cluster are associated with high Gγ-levels in the HbF of SS patients. Blood 64:452-457, 1984.
2. Sampietro M, Thein SL, Contreras M, Pazmany L: Variation of HbF and F-cell number with the GγXmn I (C-T) polymorphism in normal individuals. Blood 79:823-839, 1992.
3. Weatherall DJ, Clegg JB: "The Thalassaemia Syndromes." Oxford, England: Blackwell Scientific Publishers, 1981.
4. Dover GJ, Smith KD, Chang YP, Sheils C, Serjeant G: Fetal hemoglobin production is controlled by a gene on X-chromosome in normal adults and sickle cell patients. Blood, 76 (Suppl 10):59a, 1990.
5. 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 80:816-824, 1992.
6. Leonova JYe, Kazanetz EG, Smetanina NS, Adekile AD, Efremov GD, Huisman THJ: Variability of fetal hemoglobin level of the normal adult. Am J Hematol 53:59-65, 1996.
7. Gianni AM, Bregni M, Cappellini MD: A gene controlling fetal hemoglobin expression in adults is not linked to the non α globin cluster. EMBO J 2:921-925, 1983.
8. Martinez G, Novelletto A, DiRienzo A, Felicietti L, Colombo B: A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the β globin cluster. Hum Genet 82:335-337, 1989.
9. Miyoshi K, Kaneto Y, Kawai H, Ohchi H, Niki S, Hasegawa K, Shirakami A, Yamano T: X-linked dominant control of F-cells in normal adult life: Characterization of the swiss type of hereditary persistance of fetal hemoglobin regulated dominantly by gene(s) on X chromosome. Blood 72:1854-1866, 1988.
10. 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 54:214-228, 1994.
11. Craig JE, Rochette J, Fisher CA, Weatherall DJ, Marc S, Lathrop GM, Demenais F, Thein SL: Dissecting the loci controlling fetal hemoglobin production on chromosomes 11p and 6q by the regressive approach. Nature Genet 12:58-64, 1996.
12. Labie D, Dunda-Belkhodja O, Rouabhi F, Pagnier J, Ragusa A, Nagel RL: The -158 site 5′ to the Gγ gene and Gγ expression. Blood 66: 1463-1465, 1985.
13. Labie D, Pagnier J, Lapoumeroulie C, Rouabhi F, Duanda-Belkhodja O, Chardin P, Beldjord C, Wajcman H, Fabry ME, Nagel RL: Common haplotype dependency of high Gγ-globin gene expression and high HbF levels in β thalassemia and sickle cell anemia. Proc Natl Acad Sci USA 82:2111-2114, 1985.
14. S globin haplotypes in an Indian population with sickle cell disease. Blood 69:1742-1746, 1987.
15. Ragusa A, Lombardo M, Beldjord C, Ruberto C, Lombardo T, Elion J, Nagel RL, Krishnamoorthy R: Genetic epidemiology of β-thalassemia in Sicily: Do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia? Am J Hematol 40:199-206, 1992.
16. Semenza GL, Delgrosso K, Poncz M, Malladi P, Schwartz E, Surrey S: The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions. Cell 39:123-128, 1984.
17. y upstream to the β globin gene is a simple polymorphism. Blood 81:1974, 1993.
18. 2 and F. J Clin Pathol 4:852-856, 1993.
19. 2-Vermehrung bei der Schweizer Bevölkerung. Acta Haematol 26:65-74, 1961.
20. 4 column. J Liquid Chromatogr 7:1969-1977, 1984.
21. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16:1215, 1988.
22. Sutton M, Bouhssira EE, Nagel RL: Polymerase chain reaction amplification applied to the determination of β like gene cluster haplotypes. Am J Hematol 32:66, 1989.
23. Antonarakis SE, Kazazian Jr, HH, Orkin SH: DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 69:11-14, 1985.
24. C genes. Hum Biol 63:241-252, 1991.
25. S chromosomes with five different haplotypes. Blood 77:2488-2496, 1991.
26. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF: Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516, 1989.
27. Faustino P, Osório-Almeida L, Barbot J, Espírito-Santo D, Gonçalves J, Romão L, Martins MC, Marques MM, Lavinha J: Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β thalassemia in the Portuguese population. Hum Genet 89:573-576, 1992.
28. Camaschella C, Alfarano A, Gottardi E, Travi M, Primignani P, Cappio FC, Saglio G: Prenatal diagnosis of fetal hemoglobin Lepore-Boston disease on maternal peripheral blood. Blood 75:2102-2106, 1990.
29. Embury S, Miller J, Dozy A, Kan YW, Chan V, Todd D: Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66:1319-1325, 1980.
30. Conover WJ: "Practical Non Parametric Statistics," 2nd ed. New York: John Wiley & Sons Inc., 1980.
31. Bailey NTJ: Statistical Methods in Biology. Great Britain: Hodder and Stoughton, 1976.
32. Berg PE, William DM, Qian RL, Cohen RB, Cao S-X, Mittelman M, Schechter AN: A common protein binds to two silencers 5′ to the human β globin gene. Nucleic Acids Res 17:8333-8352, 1989.
33. Berg PE, Mittelman M, Elion J, Labie D, Schechter AN: Increased protein binding to a -530 mutation of the human β globin gene associated with decreased β globin synthesis. Am J Hematol 36:42-47, 1991.
34. S mutation. Blood 79:787-792, 1992.
35. Lapouméroulie C, Ruberto C, Amata S, Elion J, Krishnamoorthy R, Ragusa A: Analyse fonctionnelle de la région polymorphe du 2éme intron du gène de globine foetale Aγ. XIVth Congress of Hematology, Paris, France, 1995.