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绝大多数真核细胞mRNA在距polyA11～30个核苷酸处存在高度保守的polyA信号序列AAUA-AA。这个序列位于3＇非编码区域,系识别polyA位点和/或RNA聚合酶Ⅱ转录终止位点。该序列若发生缺失突变,将阻碍mRNA的加polyA尾部结构的过程。这个序列发生自然突变的机率很低,它与地贫的关系尚无报道。作者曾发现1例沙特阿拉伯的α-地贫,两条染色体上存在完整的α珠蛋白基因(共4个),但其表达仅相当于1个正常α珠蛋白基因。印迹杂交表明无基因重排发生。为了详细研究α_1和α_2珠蛋白基
The vast majority of eukaryotic mRNAs present a highly conserved polyA signal sequence AAUA-AA at 11-30 nucleotides from polyA. This sequence is located in the 3 ’noncoding region and recognizes the polyA site and / or RNA polymerase II transcription termination site. If a deletion mutation occurs in this sequence, it will hinder the process of adding polyA tail structure to mRNA. The probability of a natural mutation in this sequence is very low, and its relationship with thalassemia has not been reported yet. The authors have found that in a case of alpha-thalassemia in Saudi Arabia, there are four complete alpha-globin genes on both chromosomes, but their expression is equivalent to only one normal alpha-globin gene. Imprinting hybridization showed that no gene rearrangement occurred. In order to study the α_1 and α_2 globin groups in detail