STK_(11)基因突变在中国人Peutz-Jeghers综合征中的特征

目的　明确 STK1 1 基因在中国人 Peutz- Jeghers(PJ)综合征的突变特征 ,为建立基因诊断奠定基础。方法　用 DNA直接测序方法 ,对 18个家系的 PJ综合征患者 STK1 1 基因 9个外显子进行研究。结果　在 6个家系中发现 6个使基因产物发生改变的突变 ,推测最终导致产生截短型蛋白。结论　在中国人PJ综合征患者中 STK1 1 基因突变的检出率为 6 /18。突变位点比较广泛 ,2 /3集中在第 1外显子。两代以上发病的家系突变率为 6 6 .7% ,散发病例突变率为 16 .7

Mutation characteristic of STK_(11) gene in Chinese with Peutz-Jeghers syndrome

Objective To identify the mutation characteristic of STK 11 gene in Chinese with Peutz Jeghers syndrome(PJS) and establish the base of the gene diagnosis of PJS.Methods STK 11 germline mutation was analysed by DNA sequencing in 18 unrelation patients with PJS.Results Six novel mutations of STK 11 gene were detected in six unrelation patients. These mutations will lead to production of truncated protein.Conclusion STK 11 gene mutation accounts for one third of the Chinese with PJS. The content of mutation includes single base substitution or deletion and one or two bases insertion. The mutations were widely found in different regions of the whole coding sequence, and 2/3 of those concentrate in exon 1. Mutation frequency is 66.7% in the family suffering PJS in two or more generations, and 16.7% in the disseminated cases.