Athanassiadou A, Papachatzopoulou A, Zoumbos N, Maniatis G M, Gibbs R
Department of Basic Sciences I, Medical Faculty, University of Patras, Greece.
Br J Haematol. 1994 Oct;88(2):307-10. doi: 10.1111/j.1365-2141.1994.tb05023.x.
A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta(0)39 stop codon mutation on the other chromosome; this new mutation, +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. The +10(-T) mutation is a 'silent carrier', is associated with a reduced amount of steady-state beta-globin mRNA, and establishes a connection between the 5' untranslated region of the beta-globin gene and the regulation of its expression.
在一名中间型β地中海贫血患者中，检测到其β珠蛋白基因5'非翻译区第+10位的胸腺嘧啶缺失，该患者的另一条染色体上携带β(0)39终止密码子突变；通过自动荧光DNA测序检测到这种新突变+10(-T)，并通过斑点杂交等位基因特异性杂交进行了验证。+10(-T)突变是一种“沉默携带者”，与稳态β珠蛋白mRNA量的减少有关，并在β珠蛋白基因的5'非翻译区与其表达调控之间建立了联系。
