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目的 了解 dystrophin基因第 5 1内含子的序列特点。方法 用步移法测定第 5 1内含子全序列。测序结果用软件进行重复序列、基质附着区 (matrix attachment region,MAR)等分析 ,将全序列剔除重复序列后进行 Cp G岛、启动子、开放性可读框架 (open reading frame,ORF)及未鉴定的低拷贝重复序列分析。结果 第 5 1内含子由 3872 5 bp组成 ,GC含量为 36 .34 % ,重复序列占 37.5 3%。重复序列中以 L1序列含量最高 ,占整个内含子的 15 .38%。在第 5 1内含子发现有 4个 MAR和 1个 Topo 位点。在正反链上均发现有预测的 ORF,但根据预测的氨基酸序列未在蛋白质库中发现有同源蛋白。结论 在人类进化过程中部分内含子的扩增可能与 L1序列的插入有关 ;并非所有的重复序列均与染色体重排有关 ;在第 5 1内含子未发现重叠有其他基因结构 ;该内含子内密集有 4个 MAR结构 ,可能与形成缺失有关的染色质结构有关。
Objective To understand the sequence characteristics of intron 51 of the dystrophin gene. Methods The whole sequence of the 51st intron was determined by walking method. Sequencing results were analyzed by software such as repeat sequence and matrix attachment region (MAR). The entire sequence was excised and CpG island, promoter, open reading frame (ORF) Identified low-copy repeat analysis. Results The 5 1 intron was composed of 3872 bp with a GC content of 36.34% and a repeat sequence of 37.5%. The highest content of L1 sequence was found in the repeat sequence, accounting for 15.38% of the total intron. In the 5 1 intron, there were 4 MARs and 1 Topo site. There are predicted ORFs on both the forward and reverse strands, but no homologous protein was found in the protein library based on the predicted amino acid sequence. Conclusion Some intron amplification may be related to the insertion of L1 sequence during human evolution. Not all repeat sequences are related to chromosomal rearrangement. No other gene structure was found overlapping with intron 51 There are 4 MAR structures densely in the intron, which may be related to the chromatin structure related to the deletion.