title: [Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients].
abstract: OBJECTIVE
  To screen for potential mutations of LKB1 gene in Chinese familial Peutz-Jeghers 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 liquid chromatography 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.
  
  
  CONCLUSIONS
  LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients. Most mutations are point mutations.
authors.affiliation: Department of Gastroenterology and Hepatology, Nanjing University/Nanjing General Hospital of Nanjing Military Command, Nanjing, Jiangsu, Peoples's Republic of China.
authors.forename: Chun-yan
authors.initials: CY
authors.lastname: Chen
authors.forename: Xiao-mei
authors.initials: XM
authors.lastname: Zhang
authors.forename: Fang-yu
authors.initials: FY
authors.lastname: Wang
authors.forename: Zhen-kai
authors.initials: ZK
authors.lastname: Wang
authors.forename: Ming
authors.initials: M
authors.lastname: Zhu
authors.forename: Guo-jian
authors.initials: GJ
authors.lastname: Ma
authors.forename: Yuan-ying
authors.initials: YY
authors.lastname: Zhang
authors.forename: Xin-xin
authors.initials: XX
authors.lastname: Jin
authors.forename: Hui
authors.initials: H
authors.lastname: Shi
authors.forename: Jiong
authors.initials: J
authors.lastname: Liu
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D055815:Young Adult
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases