title: [Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome].
abstract: OBJECTIVE
  To explore the relationship between the sequence variation of the promoter region (-1543 approximately -1160) of STK11 gene and the risk of developing Peutz-Jeghers syndrome (PJS).
  
  
  METHODS
  The sequences of the promoter region of 14 PJS patients (7 patients are inherited and the other 7 patients are sporadic) and 42 normal individuals were PCR amplified and then sequenced.
  
  
  RESULTS
  A new single nucleotide polymorphism (SNP) G/T (-1275) in STK11 promoter region was identified. The frequency of genotype GG, GT, and TT was 53.3%, 26.7%, and 20%, respectively among PJS patients and 33.3%, 64.3%, and 2.4%, respectively among the normal individuals. The frequency of genotype GG and TT among patients was significantly higher than that among the normal individuals, and the frequency of genotype GT among patients was significantly lower than that among the normal individuals (chi(2)=8.521, P<0.05).
  
  
  CONCLUSIONS
  G/T(-1275) in STK11 promoter region is a new SNP. The genotype of this new SNP may relate to the risk of developing Peutz-Jeghers syndrome (PJS) deserve further research.
authors.affiliation: Department of Gastroenterology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
authors.forename: Mao-Jin
authors.initials: MJ
authors.lastname: Yao
authors.forename: Yong-Jun
authors.initials: YJ
authors.lastname: Wang
authors.forename: Jian-Guang
authors.initials: JG
authors.lastname: Tang
authors.forename: Wen-Feng
authors.initials: WF
authors.lastname: Ning
authors.forename: Xiang-Ping
authors.initials: XP
authors.lastname: Wang
authors.forename: Shi-Quan
authors.initials: SQ
authors.lastname: Zhou
authors.forename: Chen-Jie
authors.initials: CJ
authors.lastname: Li
authors.forename: Fei
authors.initials: F
authors.lastname: Wang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xiao-Liu
authors.initials: XL
authors.lastname: Shi
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D001483:Base Sequence; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / 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