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- 2018
人SLC25A13基因内含子突变IVS6-11A>G导致转录子剪接异常
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Abstract:
摘要 目的: 通过minigene剪接实验分析SLC25A13基因内含子突变IVS6-11A>G是否导致转录子剪接异常,并确定其剪接方式,进而明确其在Citrin缺陷病的致病性. 方法: 构建携带突变的目的片段外显子捕获载体,转染293T细胞后逆转录PCR扩增转录产物,测序并分析. 结果: IVS6-11A>G突变导致SLC25A13基因内含子6的3'端10个碱基保留于转录子中,致蛋白翻译提前终止,Citrin蛋白功能丧失. 结论: SLC25A13基因IVS6-11A>G突变为剪接突变,其剪接方式为可变3'剪接,该突变为Citrin缺陷病致病突变.
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