title: High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.
abstract: BACKGROUND
  Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in multiple internal organs. Depending on the studied population, its incidence has been estimated to range from 1:200 000 even up to 1:50 000 births. Being an autosomal disease, PJS is caused in most cases by mutations in the STK11 gene.
  
  
  METHODS
  The majority of causative DNA changes identified in patients with PJS are small mutations and, therefore, developing a method of their detection is a key aspect in the advancement of genetic diagnostics of PJS patients. We designed 13 pairs of primers, which amplify at the same temperature and enable examination of all coding exons of the STK11 gene by the HRM analysis.
  
  
  RESULTS
  In our group of 41 families with PJS small mutations of the STK11 gene were detected in 22 families (54%). In the remaining cases all of the coding exons were sequenced. However, this has not allowed to detect any additional mutations.
  
  
  CONCLUSIONS
  The developed methodology is a rapid and cost-effective screening tool for small mutations in PJS patients and makes it possible to detect all the STK11 gene sequence changes occurring in this group.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, Poznan, 60-479, Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Borun
authors.forename: Anna
authors.initials: A
authors.lastname: Bartkowiak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Banasiewicz
authors.forename: Boguslaw
authors.initials: B
authors.lastname: Nedoszytko
authors.forename: Dorota
authors.initials: D
authors.lastname: Nowakowska
authors.forename: Mikolaj
authors.initials: M
authors.lastname: Teisseyre
authors.forename: Janusz
authors.initials: J
authors.lastname: Limon
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Lukasz
authors.initials: L
authors.lastname: Kubaszewski
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Walkowiak
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Czkwianianc
authors.forename: Monika
authors.initials: M
authors.lastname: Siolek
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kedzia
authors.forename: Piotr
authors.initials: P
authors.lastname: Krokowicz
authors.forename: Wojciech
authors.initials: W
authors.lastname: Cichy
authors.forename: Andrzej
authors.initials: A
authors.lastname: Plawski
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D019943:Amino Acid Substitution; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism*; D012680:Sensitivity and Specificity; D013997:Time Factors
chemical_list: D017931:DNA Primers; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases