颈动脉体瘤家系琥珀酸脱氢酶D亚单位基因截短体R38X质粒构建和体外功能验证

Plasmid reconstruction and functional verification in vitro of of SDHD truncated gene of R38X in carotid body tumor

目的构建并验证琥珀酸脱氢酶(succinate dehydrogenase,SDH)亚单位SDHD基因截短体R38X的质粒。方法分析家族型颈动脉体瘤家系基因,进行SDHD基因外显子俘获"二代"测序分析。体外构建SDHD基因截短体并研究在293T细胞中的表达水平。结果 SDHD基因在家族性颈动脉体瘤中存在R38X突变,截短体在293T细胞中能良好表达,可抑制全长SDHD的转录。结论 SDHD基因突变截短体R38X能抑制表达,具体机制还需深入研究。

OBJECTIVE The plasmid construction and validation of truncated SDHD gene of R38X in vitro. METHODS The SDHD gene exon in the familial carotid body tumor gene family was analized with muon capture 'two generation' sequencing of. In vitro, the SDHD truncated gene expression in 293T cells and the effect to the full-length SDHD expression were studied. RESULTS The SDHD gene R38X mutation in familial carotid body tumor truncated was expressed in 293T cells, and its transcription can inhibit full-length SDHD expression. CONCLUSION The mutation of SDHD gene can inhibit the expression of truncated R38X, and further study should focus on its specific mechanism.