title: [Haplotypes of the beta-globulin locus in Czechs and Slovaks with beta-thalassemia and structurally variant hemoglobins].
abstract: In 29 Czech and Slovak families with the most frequent and newly identified beta-thalassaemic alleles and with some structural haemoglobin variants (Hb E, Hb Haná, Hb Santa Ana) haplotypes of the beta-globin locus of alleles with these mutations were identified. In most instances haplotypes I and V were involved which were found in 57% of the patients. The bond of the most common beta-thalassaemic mutation: IVS-I-1, IVS-I-110, CD 39 (C-T), IVS-II-745, IVS-I-6 with alleles with the same haplotypes as in the mediterranean region suggests a mediterranean origin of these mutations. In Hb Santa Ana a hitherto not described haplotype was identified (-(+)-(-)-(+3), indicating a de novo origin of the mutation. Also in newly identified beta-thalassaemic mutations in CD 7/8 (+G), in CD 38/39 (-C) and in HbE and Hb Haná de novo development is probable.
authors.affiliation: Hemato-onkologická klinika FN a LF UP, Olomouc.
authors.forename: E
authors.initials: E
authors.lastname: Kynclová
authors.forename: L
authors.initials: L
authors.lastname: Kovaríková
authors.forename: P
authors.initials: P
authors.lastname: Fajkosová
authors.forename: R
authors.initials: R
authors.lastname: Melichárková
authors.forename: J
authors.initials: J
authors.lastname: Indráková
authors.forename: V
authors.initials: V
authors.lastname: Brabec
authors.forename: J
authors.initials: J
authors.lastname: Cermák
authors.forename: K
authors.initials: K
authors.lastname: Jindrák
authors.forename: K
authors.initials: K
authors.lastname: Indrák
mesh_terms: D018153:Czech Republic; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D018154:Slovakia; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins