title: [Analysis of APC gene mutation in a familial adenomatous polyposis pedigree].
abstract: OBJECTIVE
  To analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.
  
  
  METHODS
  The diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. After finding the mutation in the proband, the same mutation was screened among other family members. The mutation was also confirmed with PCR-restriction fragment length polymorphism (RFLP), with which 100 unrelated healthy controls were examined.
  
  
  RESULTS
  A novel heterozygous nonsense mutation c.2891T>G (L964X) of the APC gene was identified in this pedigree. The mutation has led to premature termination of translation. The same mutation was not detected among the 100 healthy controls.
  
  
  CONCLUSIONS
  The c.2891T>G (L964X) of the APC gene probably underlies the familial adenomatous polyposis in this pedigree. The combined DNA sequencing and PCR-RFLP method is efficient and accurate for the diagnosis.
authors.affiliation: Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P. R. China. fhlan009@qq.com.
authors.forename: Min
authors.initials: M
authors.lastname: Zhang
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Wang
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Lin
authors.forename: Yuxiang
authors.initials: Y
authors.lastname: Lin
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Li
authors.forename: Aizhen
authors.initials: A
authors.lastname: Yan
authors.forename: Xianguo
authors.initials: X
authors.lastname: Fu
authors.forename: Fuchun
authors.initials: F
authors.lastname: Zhong
authors.forename: Fenghua
authors.initials: F
authors.lastname: Lan
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D055815:Young Adult
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein