Molecular genetics of the hereditary alterations of hemoglobin and functional study of the gamma globin genes

• Grant number: 97/11725-1
• Support Opportunities: Research Projects - Thematic Grants
• Start date: July 01, 1998
• End date: August 31, 2003
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Fernando Ferreira Costa
• Grantee: Fernando Ferreira Costa
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Pesquisadores principais: Maria de Fatima Sonati ; Sara Teresinha Olalla Saad ; Valder Roberval Arruda

Abstract

The proposed project comprises the analysis of the molecular alterations in structural variants of hemoglobin, in the hereditary persistence of fetal hemoglobin, and in the thalassemia syndromes; the analysis of polymorphisms of the complex of the beta globin gene in hemoglobinopathies and the functional study and characterization of the transcription factors in the promoters of gamma globin. In addition to this, it will include the cloning of the alpha chain gene of the hemoglobin of the terrestrial tortoise Geochelone carbonaria. It is worth mentioning that the beta globin gene was cloned by us and sequenced. (AU)

Scientific publications

(7)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

S.B. JORGE; M.B. MELO; F.F. COSTA; M.F. SONATI. Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism. Brazilian Journal of Medical and Biological Research, v. 36, n. 11, p. 1471-1474, 2003-11-00. (97/11725-1)

M.R.S.C. WENNING; E.M. KIMURA; F.F. COSTA; S.T.O. SAAD; S. GERVÁSIO; S.B. DE JORGE; E. BORGES; N.M. SILVA; M.F. SONATI. alpha-Globin genes: thalassemic and structural alterations in a Brazilian population. Brazilian Journal of Medical and Biological Research, v. 33, n. 9, p. 1041-1045, 2000-09-00. (97/11725-1)

E. BORGES; M.R.S.C. WENNING; E.M. KIMURA; S.A. GERVÁSIO; F.F. COSTA; M.F. SONATI. High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia. Brazilian Journal of Medical and Biological Research, v. 34, n. 6, p. 759-762, 2001-06-00. (97/11725-1)

DUARTE‚ D.F.; KIMURA‚ E.M.; ALBUQUERQUE‚ D.M.; PINHEIRO‚ V.R.P.; COSTA‚ F.F.; SONATI‚ M.F.. Structural Alterations of the $\gamma$-Globin Genes in a Brazilian Population. HEMOGLOBIN, v. 28, n. 1, p. 73-77, 2004. (97/11725-1)

CASTILHO‚ L.; RIOS‚ M.; BIANCO‚ C.; PELLEGRINO JR‚ J.; ALBERTO‚ F.L.; SAAD‚ S.T.O.; COSTA‚ F.F.. DNA-based typing of blood groups for the management of multiply-transfused sickle cell disease patients. Transfusion, v. 42, n. 2, p. 232-238, 2002. (97/11725-1)

KIMURA‚ E.M.; JORGE‚ S.B.; OGO‚ S.H.; CESQUINI‚ M.; ALBUQUERQUE‚ D.M.; FATTORI‚ A.; SAAD‚ S.T.O.; COSTA‚ F.F.; SONATI‚ M.F.. A NOVEL β-GLOBIN VARIANT: Hb POÇOS DE CALDAS [β 61 (E5) Lys→ Gln]. HEMOGLOBIN, v. 26, n. 4, p. 385-388, 2002. (97/11725-1)

E.M. KIMURA; C.R.E. GRIGNOLI; V.R.P. PINHEIRO; F.F. COSTA; M.F. SONATI. Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient. Brazilian Journal of Medical and Biological Research, v. 36, n. 6, p. 699-701, 2003-06-00. (97/11725-1)