塞浦路斯人群中的β地中海贫血突变

The beta-thalassaemia mutations in the population of Cyprus.

作者信息

Baysal E, Indrak K, Bozkurt G, Berkalp A, Aritkan E, Old J M, Ioannou P, Angastiniotis M, Droushiotou A, Yüregir G T

机构信息

Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.

出版信息

Br J Haematol. 1992 Aug;81(4):607-9. doi: 10.1111/j.1365-2141.1992.tb03000.x.

DOI:10.1111/j.1365-2141.1992.tb03000.x

PMID:1390250

Abstract

We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The data confirmed earlier observations that the IVS-I-100 (G-->A) mutation is present for about 74-80%, while three other alleles [IVS-II-745 (C-->G), IVS-I-6 (T-->C), IVS-I-1 (G-->A)] occur at frequencies of 5-8%. Nearly identical percentages were observed for the two Cypriot groups, quite different from those for beta-thalassaemia patients from Greece and Turkey. This suggests close contacts between the two Cypriot communities during many centuries without a major recent influence from Greek or Turkish beta-thalassaemia carriers.

摘要

我们已经在几乎所有已知的塞浦路斯土耳其族β地中海贫血纯合子以及生活在塞浦路斯岛上的700多名希腊族塞浦路斯β地中海贫血杂合子中鉴定出了β地中海贫血等位基因。数据证实了早期的观察结果，即IVS-I-100（G→A）突变出现的频率约为74%-80%，而其他三个等位基因[IVS-II-745（C→G）、IVS-I-6（T→C）、IVS-I-1（G→A）]出现的频率为5%-8%。两个塞浦路斯群体的观察结果几乎相同，这与希腊和土耳其的β地中海贫血患者的情况有很大不同。这表明在许多世纪里，两个塞浦路斯群体之间有密切接触，而近期没有受到希腊或土耳其β地中海贫血携带者的重大影响。