title: [Mutations of the STK11 and FHIT genes among patients with Peutz-Jeghers syndrome].
abstract: OBJECTIVE
  To correlate the clinical characteristics with mutations of the STK11 and FHIT genes in 16 patients with Peutz-Jeghers syndrome (PJS).
  
  
  METHODS
  Potential mutations in the coding regions and flanking sequences of the STK11 and FHIT genes were detected with PCR and Sanger sequencing.
  
  
  RESULTS
  Of the 16 patients with PJS, 8 had novel mutations in the coding region of the STK11 gene, 1 had a previously reported mutation. 1 carried a mutation in the exon 10 of the FHIT gene, which is a non-coding region. None of the mutations was detected in the immediate family members. None of the patients with STK11 gene mutations had mutation in the FHIT gene. The mutation rate of the STK11 gene among patients with PJS was 56.25%.
  
  
  CONCLUSIONS
  Mutations of the STK11 gene are the major cause of PJS. Few such patients had mutations of the FHIT gene. Mutations of the FHIT gene may play a part in the pathogenesis of PJS.
authors.affiliation: Department of Gastroenterology, Beijing Tongzhou Xinhua Hospital, Beijing 101100, China. Ning-shoubin@163.com.
authors.forename: Xuyan
authors.initials: X
authors.lastname: Mao
authors.forename: Yafei
authors.initials: Y
authors.lastname: Zhang
authors.forename: Haifeng
authors.initials: H
authors.lastname: Wang
authors.forename: Gaoping
authors.initials: G
authors.lastname: Mao
authors.forename: Shoubin
authors.initials: S
authors.lastname: Ning
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D017766:Acid Anhydride Hydrolases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D055815:Young Adult; D000099170:Bis(5'-adenosyl)triphosphatase
chemical_list: D000091162:AMP-Activated Protein Kinase Kinases; D017766:Acid Anhydride Hydrolases; D009363:Neoplasm Proteins; D017346:Protein Serine-Threonine Kinases; D000099170:Bis(5'-adenosyl)triphosphatase; C109790:STK11 protein, human