dc.creator | Urosević, J. | |
dc.creator | Đureinović, T. | |
dc.creator | Poznanić, J. | |
dc.creator | Cvorkov-Drazić, M. | |
dc.creator | Bunjevacki, G. | |
dc.creator | Janić, D. | |
dc.creator | Krivokapić-Dokmanović, L. | |
dc.creator | Popović, Z. | |
dc.creator | Pavlović, Sonja | |
dc.date.accessioned | 2022-11-15T13:34:41Z | |
dc.date.available | 2022-11-15T13:34:41Z | |
dc.date.issued | 2001 | |
dc.identifier.issn | 1311-0160 | |
dc.identifier.uri | https://imagine.imgge.bg.ac.rs/handle/123456789/152 | |
dc.description.abstract | Screening analysis of Yugoslav patients with suspected thalassemia syndromes in last 4 years revealed six patients who were Hb Lepore carriers. Three were compound heterozygotes for Hb Lepore and β-thalassemia, and they were affected with a thalassemia major syndrome. Family studies revealed 12 heterozygous relatives. All heterozygous carriers of Hb Lepore had a clinical phenotype of thalassemia trait. The detection of Hb Lepore was carried out by electrophoresis on cellulose acetate and confirmed by gap-polymerase chain reaction analysis of patients' DNA. Sequence analysis of all the Hb Lepore genes showed the same DNA sequence, indicating that the mutation was of the Hb Lepore-Boston-Washington type. Moreover, a single base substitution within the second intervening sequence [IVS-II-74 (G→T)] was detected in all analyzed hybrid genes. The molecular characteristics of this homogeneity represent additional data for the probable Balkan origin of this mutation. | en |
dc.publisher | Macedonian Academy Of Sciences And Arts | |
dc.rights | restrictedAccess | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.source | Balkan Journal of Medical Genetics | |
dc.subject | Hemoglobin (Hb) variants | en |
dc.subject | Hb Lepore | en |
dc.subject | Frameworks (FWs) | en |
dc.title | Homogeneity of the Hb Lepore gene in FR Yugoslavia | en |
dc.type | article | |
dc.rights.license | BY-NC-ND | |
dc.citation.epage | 32 | |
dc.citation.issue | 1-2 | |
dc.citation.other | 4(1-2): 29-32 | |
dc.citation.spage | 29 | |
dc.citation.volume | 4 | |
dc.identifier.rcub | https://hdl.handle.net/21.15107/rcub_imagine_152 | |
dc.identifier.scopus | 2-s2.0-0035728573 | |
dc.type.version | publishedVersion | |