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目的：研究基因CERKL 过度表达与色素性视网膜炎的关系及其临床治疗意义。方法：应用RT-PCR 分析、比较基因序列 CERKL的转录产物的结构差异。利用序列CERKL过表达的转化与细胞溶解，获得不同的CERKL蛋白，检测其体外磷酸化酶活性。结果：CERKL转录得到四种转录子，两个较长的CERKLa、CERKLb，两个较短的CERKLc、CERKLd。四种转录蛋白在体外酶活性实验中均没有产生酶解产物C1P，在300 uMH2O2氧化条件下，转录子CERKL能有效抑制细胞凋亡，其24 h相对PARP 清除率明显低于12 h相对PARP清除率（P<0.01）。但在400 uMH2O2氧化条件下其未能表现出抑制细胞凋亡的作用。结论：色素性视网膜炎有可能是基因CERKL转录时其终止子因无义突变导致缺陷，进而发生选择性转录，并由CERKL较长变异体（CERKLa、 CERKLb）的缺失或CERKL较短变异体（CERKLc、CERKLd）毒性引起的。

英文摘要:

Objective:To investigate the relation and clinical significance of overexpression of genetic sequence CERKL in human retinitis pigmentosa.Methods:Analysis and comparison of construction difference of transcription products of gene CERKL was conducted by RT-PCR. Then by means of overexpression of gene CERKL and cytolysis of transfected cell, several different proteins were obtained and activities of their phosphorylase were detected.Results:CERKL transcription produced four transcripts, two of which were longer transcripts called CERKLa, CERKLb, and two other of which were shorter transcripts called CERKLc, CERKLd. In vitro four types of transcription protein were not detected presence of enzymolysis products C1P and transcripts CERKL could effectively inhibit apoptosis and the relative PARP clearance rate in 24 h was significantly lower than relative PARP clearance rate in 12 h under 300 uM H2O2 oxidizing condition. However, anti-apoptosis activity of transcripts CERKL were detected under 400 uM H2O2 oxidizing condition.Conclusion:Retinitis pigmentosa likely happened when its CERKL gene transcription terminator was defects caused by nonsense mutations and its selective transcription occurred, which led to absence of the longer CERKL variants (CERKLa, CERKLb) or toxicity of shorter CERKL variants (CERKLc, CERKLd).

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