Peutz-Jeghers综合征STK13基因突变分析

STK13 gene mutation in Chinese patients with Peutz Jeghers syndrome

目的研究STK13基因在部分PeutzJeghers综合征(PJS)家系中的突变情况,判断它是否为中国人PJS新的致病基因,为基因诊断奠定基础。方法采用聚合酶链反应单链构象多态性分析(PCRSSCP)和DNA测序的方法,选择10个无STK11基因突变的PJS家系,对STK13基因进行突变分析。结果所有7个外显子均未检测到致病突变。结论STK13基因不是中国人PJS患者新的致病基因。

Objective To investigate whether STK13 gene in the patients with Peutz Jephers syndrome(PJS) is the new causative gene. Methods STK13 gene mutation screening was carried out in 10 PJS families without STK11 gene mutations by means of polymerase chain reaction single strand conformation polymorphism(PCR SSCP) combined with direct DNA sequencing. Results No pathogenic mutations was found at all of the 7 exons. Conclusion STK13 is not the new causative gene in Chinese patients with PJS.