title: [Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome].
abstract: OBJECTIVE
  To investigate STK11 gene mutation in a pedigree with Peutz-Jeghers syndrome (PJS).
  
  
  METHODS
  A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STK11 gene. PCR products were directly sequenced to detect mutation.
  
  
  RESULTS
  A missense mutation p.F354L (c.1062C>G) in exon 8 of the STK11 gene has been identified in all patients with PJS, but was not found in normal individuals from the pedigree and 100 unrelated controls.
  
  
  CONCLUSIONS
  A missense mutation p.F354L of STK11 gene probably underlies the disease in this pedigree.
authors.affiliation: Department of Dermatology, Central Laboratory, the First Affiliated Hospital, Xiamen University, Xiamen, Fujian 361003, P. R. China. Email: h8883697@126.com.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhao
authors.forename: Yijin
authors.initials: Y
authors.lastname: Huang
authors.forename: Bingchun
authors.initials: B
authors.lastname: Yang
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases