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目的:研究dystrophin基因3-7号外显子缺失后下游新翻译区启动与贝克氏肌营养不良(Becker muscular dystrophy,BMD)的关系及可能机制。方法:用生物信息学方法对dystrophin基因3-7号外显子缺失后可能的启动子、开放阅读框、翻译起始位点、蛋白疏水性性质改变及重要结构域进行分析。结果:3-7号外显子缺失后,起始于正常肌肉启动子的转录体,其翻译阅读框提前终止,但在8号外显子内可能启动一个新的翻译阅读框;内含子2或7里可能含有类似启动子的元件,也可能导致8号外显子内翻译区的启动。新阅读框编码的蛋白仍然保留有重要的功能区,患者可以表现为BMD。结论:dystrophin基因3-7号外显子缺失后下游新翻译区仍有存在启动的可能,患者可以表现为BMD表型。
OBJECTIVE: To study the relationship between the activation of the downstream translation region and Becker muscular dystrophy (BMD) after dystrophin gene exon 3-7 deletion and its possible mechanism. Methods: Bioinformatics methods were used to analyze possible promoters, open reading frames, translation initiation sites, hydrophobic changes of proteins and important domains of dystrophin gene exon 3-7. RESULTS: Exon 3-7 was deleted from the transcriptome of normal muscle promoter and its translational reading frame was prematurely terminated, but a new translational reading frame could be initiated in exon 8; intron 2 or 7 may contain similar promoter elements, may also lead to exon 8 within the translation region of the start. The protein encoded by the new reading frame still retains an important functional area, and the patient can manifest as BMD. CONCLUSION: There is still a possibility that the dystrophin gene may be activated in the newly translated region downstream of the deletion of exon 3-7. The patient may present with BMD phenotype.