土族塞浦路斯人β地中海贫血突变
Beta thalassaemia mutations in Turkish Cypriots.
作者信息
Sozuoz A, Berkalp A, Figus A, Loi A, Pirastu M, Cao A
机构信息
Turkish Cypriot Thalassaemia Control Program, Nicosia, Cyprus.
出版信息
J Med Genet. 1988 Nov;25(11):766-8. doi: 10.1136/jmg.25.11.766.
Abstract
Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely beta+ IVS-1 nt 110, beta zero IVS-1 nt, beta+ IVS-1 nt 6, and beta+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the beta thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of beta thalassaemia by DNA analysis in the Turkish population.
摘要
我们运用寡核苷酸杂交或限制性内切酶分析技术，对94名重型地中海贫血患者以及4名中间型地中海贫血患者（均为土族塞人后裔）的分子缺陷进行了特征分析。我们发现，四种突变，即β⁺IVS-1 nt 110、β⁰IVS-1 nt、β⁺IVS-1 nt 6以及β⁺IVS-2 nt 745较为常见，分别占β地中海贫血染色体的69.9%、11.7%、8.7%和5.6%。这一信息或许有助于在土耳其人群中基于DNA分析对β地中海贫血进行胎儿诊断，从而组织大规模的预防计划。
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