Homogeneity of the Hb Lepore gene in FR Yugoslavia
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Urosević, J.Đureinović, T.
Poznanić, J.
Cvorkov-Drazić, M.
Bunjevacki, G.
Janić, D.
Krivokapić-Dokmanović, L.
Popović, Z.
Pavlović, Sonja
Article (Published version)
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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.
Keywords:
Hemoglobin (Hb) variants / Hb Lepore / Frameworks (FWs)Source:
Balkan Journal of Medical Genetics, 2001, 4, 1-2, 29-32Publisher:
- Macedonian Academy Of Sciences And Arts
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Urosević, J. AU - Đureinović, T. AU - Poznanić, J. AU - Cvorkov-Drazić, M. AU - Bunjevacki, G. AU - Janić, D. AU - Krivokapić-Dokmanović, L. AU - Popović, Z. AU - Pavlović, Sonja PY - 2001 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/152 AB - 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. PB - Macedonian Academy Of Sciences And Arts T2 - Balkan Journal of Medical Genetics T1 - Homogeneity of the Hb Lepore gene in FR Yugoslavia EP - 32 IS - 1-2 SP - 29 VL - 4 UR - https://hdl.handle.net/21.15107/rcub_imagine_152 ER -
@article{ author = "Urosević, J. and Đureinović, T. and Poznanić, J. and Cvorkov-Drazić, M. and Bunjevacki, G. and Janić, D. and Krivokapić-Dokmanović, L. and Popović, Z. and Pavlović, Sonja", year = "2001", 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.", publisher = "Macedonian Academy Of Sciences And Arts", journal = "Balkan Journal of Medical Genetics", title = "Homogeneity of the Hb Lepore gene in FR Yugoslavia", pages = "32-29", number = "1-2", volume = "4", url = "https://hdl.handle.net/21.15107/rcub_imagine_152" }
Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z.,& Pavlović, S.. (2001). Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics Macedonian Academy Of Sciences And Arts., 4(1-2), 29-32. https://hdl.handle.net/21.15107/rcub_imagine_152
Urosević J, Đureinović T, Poznanić J, Cvorkov-Drazić M, Bunjevacki G, Janić D, Krivokapić-Dokmanović L, Popović Z, Pavlović S. Homogeneity of the Hb Lepore gene in FR Yugoslavia. in Balkan Journal of Medical Genetics. 2001;4(1-2):29-32. https://hdl.handle.net/21.15107/rcub_imagine_152 .
Urosević, J., Đureinović, T., Poznanić, J., Cvorkov-Drazić, M., Bunjevacki, G., Janić, D., Krivokapić-Dokmanović, L., Popović, Z., Pavlović, Sonja, "Homogeneity of the Hb Lepore gene in FR Yugoslavia" in Balkan Journal of Medical Genetics, 4, no. 1-2 (2001):29-32, https://hdl.handle.net/21.15107/rcub_imagine_152 .