中文摘要：

目的：探讨分子伴侣在F275S KCNQ1基因突变导致内质网滞留中的作用，明确先天性长QT综合征的发病机制。方法：利用Effectene转染试剂介导将pcDNA3．1．F275SKCNQ1和pcDNA3．1-KCNE1共转染HEK293细胞。然后，采用RT-PCR和Western Blot分析，检测转染细胞内分子伴侣GRP94、GRP78、CHOP和XBP1的表达变化。结果：RT-PCR和Western Blot结果显示，与野生型和空白对照组相比，突变型转染组GRP94和GRP78在mRNA和蛋白水平表达均明显增加（P〈0．05），而CHOP和XBP1mRNA表达无明显差异（P〉0．05）。结论：GRP94和GRP78参与了F275SKCNQ1突变基因导致的编码蛋白内质网滞留。

英文摘要：

Objective： To investigate the molecular chaperone involving in endoplasmic reticulum retention caused by F275S KCNQ1 mutation. Methods： Wild type and mutant constructs were transiently transfected into human embryonic kidney 293 cells using Effectene reagent. After transfection, the expression of molecular chaperone such as GRP94. GRP78. CHOP and XBPl were studied with RT-PCR and Western Blot. Results： RT-PCR and Western Blot analysis showed that the expressions of GRP94 and GRP78 were both up-regulated and those of CHOP and XBP1 were unaffected. Conclusions： GRP94 and GRP78, as molecular chaperone, mediated endoplasmic reticulum retention that F275S KCNQI mutation caused.