关键词: PeutzJeghers综合征, p21活化激酶类, 基因, 突变

Abstract: ［Abstract］  Objective〖HTSS〗〓To analyze serine/threonine kinase 11 (STK11) gene in patients with PeutzJeghers syndrome(PJS), and explore the relationship between different mutations and clinical features.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓The sequencing of STK11 gene coding region was analyzed from 54 inpatients with PJS. Their clinical manifestations and mutations were analyzed. The clinical characteristics of different mutations were compared.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓Of the 54 patients with PJS, 33 cases were found to have mutations in the coding region of STK11 gene. Among them, 30 cases were probands (the mutation detection rate was 58.8%, 30/51), the mutation detection rate of familial patient was 55.0%（11/20）, and the mutation detection rate sporadic patient was 55.9%（19/34）. The 5 patients from 3 families had the same point mutation(c.180C>G), which was suspected high frequency mutation. In another family, 2 patients also had the same mutation(c.658C>T). A patient had two mutations; the other 26 patients had a single mutation site. The proportion of patients with c.180C>G in the first onset age and the first surgery age<7 years of age were significantly higher than other mutations, the difference was statistically significant(P＜005). There were no significant differences in gender, family history, tumor history, abdominal symptoms, and surgical history.
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓STK11 gene mutation is the main pathogenicity of PJS. A high frequency mutations were found, patients with this mutation had symptoms and undergo surgery earlier than other patients. We should pay more attention in clinical monitoring and treatment.

Key words: PeutzJeghers syndrome, p21activated kinases, genes, mutation