Kynclová E, Kovaríková L, Fajkosová P, Melichárková R, Indráková J, Brabec V, Cermák J, Jindrák K
Hemato-onkologická klinika FN a LF UP, Olomouc.
Vnitr Lek. 1998 Sep;44(9):518-23.
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.
在29个捷克和斯洛伐克家庭中，携带最常见和新发现的β地中海贫血等位基因以及一些血红蛋白结构变异体（Hb E、Hb Haná、Hb Santa Ana），鉴定了带有这些突变的等位基因的β珠蛋白基因座单倍型。在大多数情况下，涉及单倍型I和V，在57%的患者中发现。最常见的β地中海贫血突变：IVS-I-1、IVS-I-110、CD 39（C-T）、IVS-II-745、IVS-I-6与在地中海地区具有相同单倍型的等位基因的关联表明这些突变起源于地中海地区。在Hb Santa Ana中鉴定出一种迄今未描述的单倍型（-（+）-（-）-（+3）），表明该突变是新发的。同样，在新发现的CD 7/8（+G）、CD 38/39（-C）的β地中海贫血突变以及HbE和Hb Haná中，新发突变也很可能。
