[Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients].

Objective To screen for potential mutations of LKB1 gene in Chinese familial PeutzJeghers syndrome (PJS) patients and analyze their clinical manifestations.Methods Eleven PJS families were collected and genomic DNA of peripheral blood was extracted.Typically mucosal pigmentation and hamartomatous polyps were present in all 11 probands.Mutation screening of the probands were carried out by PCR and direct sequencing.Two hundred and fifty healthy adults were enrolled as normal controls,for whom genomic DNA of peripheral blood was also extracted. PCR-denaturing high performance liquidchromatography was carried out to verify the mutation identified in the patients.Results Nine germline mutations were identified in eight PJS patients,which included 7 point mutations,1 deletion and 1 insertion.Among these,4 were considered to be pathogenic,of which 2 were de novel,4 were considered to be polymorphism,and 1 was uncertain.Conclusion LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients.Most mutations are point mutations. Key words: Peutz-Jeghers syndrome;  LKB1 gene;  Germline mutation