Objectives: To understand the mutation characteristic of STK11 gene in Chinese with Peutz-Jeghers syndrome and establish the gene diagnosis of PJS.
Methods: STK11 gene was analysed by PCR-SSCP and DNA sequencing in 8 Chinese pedigrees with PJS.
Results: Two novel point mutations of STK11 gene were detected in two pedigrees: one was nonsense in exon1, and another mutation occurred in splice spot in the donor site of intron 1. It was estimated that these mutations would lead to produce truncated protein.
Conclusion: Point mutation in STK11 may be chief in Chinese with PJS and the frequency of mutation was fewer than that in previous reports. It suggested that there may be genetic heterogeneity in PJS.