title: Molecular basis of thalassemia syndromes in Serbia and Montenegro.
abstract: This study reports the molecular characterization of thalassemia syndromes in Serbian and Montenegrin populations. We identified eight beta-thalassemia mutations [codon 39 (C-->T), IVS-I-110 (G-->A), IVS-II-745 (C-->G), codon 44 (-C), -87 (C-->G), IVS-II-1 (G-->A), IVS-I-6 (T-->C), IVS I-1 (G-->A)] in 70 members of 29 families using polymerase chain reaction, reverse dot blot, amplification refractory mutation system and direct sequencing analysis. Hemoglobin (Hb) Lepore was found to be the most common cause of the thalassemia phenotype. Hb Sabine and alpha-thalassemia were detected as well. We also studied beta-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with the Hb Lepore gene was identified. The results presented herein allowed the implementation of a prenatal diagnosis program in Serbia and Montenegro.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro. sonya@sezampro.yu
authors.forename: S
authors.initials: S
authors.lastname: Pavlovic
authors.forename: J
authors.initials: J
authors.lastname: Urosevic
authors.forename: J
authors.initials: J
authors.lastname: Poznanic
authors.forename: L J
authors.initials: LJ
authors.lastname: Perisic
authors.forename: B
authors.initials: B
authors.lastname: Petrucev
authors.forename: N
authors.initials: N
authors.lastname: Tosic
authors.forename: L
authors.initials: L
authors.lastname: Krivokapic-Dokmanovic
authors.forename: D
authors.initials: D
authors.lastname: Janic
authors.forename: M
authors.initials: M
authors.lastname: Cvorkov-Drazic
authors.forename: G
authors.initials: G
authors.lastname: Bunjevacki
mesh_terms: D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015022:Yugoslavia; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore