Τίτλος:
Scanning of beta-globin gene for identification of beta-thalassemia
mutation in Romanian population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
beta-Thalassemia is uncommon (0.5%) in the Romanian population, but it
must be considered in the differential diagnosis of hypochromic anemia.
The molecular characterization of beta-thalassemia is absolutely
necessary for molecular diagnosis, as well as any genetic
epidemiological study in this region. Molecular analyses consist of
mutation detection by molecular scanning of beta-globin gene. This gene
has 3 exons and 2 introns, involved in beta-thalassemia pathogenesis.
Clinical application of DNA analysis on beta-thalassemic chromosomes
allowed characterization of 29 persons with different beta-thalassemia
mutations among 58 patients with anemia. The experimental strategy was
based on sequential PCR amplification of most of the beta-globin gene
and running on denaturing gradient gel electrophoresis of amplification
products. Definitive characterization of mutations in samples identified
with shifted DGGE patterns was performed ARMS-PCR and/or PCR-restriction
enzyme analysis methods. Eight different beta-thalassemia alleles were
identified, the most common being IVS I-110 (G-A) and cd 39 (C-T).
Comparison of overall frequency of mutations in the neighboring
countries, shows that these results are in the frame of overall
distribution of these mutations in Mediterranean area, especially in
Greece and in Bulgaria. Molecular diagnosis is useful for
differentiating mild from severe alleles, for genetic counseling, as
well as for mutation definition in carriers, identified by hematological
analysis necessary for prenatal testing and genetic counseling.
Συγγραφείς:
Talmaci, R
Traeger-Synodinos, J
Kanavakis, E
Coriu, D and
Colita, D
Gavrila, L
Περιοδικό:
Journal of Cellular and Molecular Medicine
Λέξεις-κλειδιά:
beta-globin gene; beta-thalassemia; mutation screening; gene scanning;
DNA analysis DGGE; ARMS-PCR; PCR-RFLP
DOI:
10.1111/j.1582-4934.2004.tb00278.x
