title: [Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis].
abstract: OBJECTIVE
  To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.
  
  
  RESULTS
  Germline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.
  
  
  CONCLUSIONS
  C.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.
authors.affiliation: Department of Medical Oncology, Jiangsu Institute of Cancer Research, Jiangsu Cancer Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210009, P. R. China. fjif@medmail.com.cn.
authors.forename: Qingwei
authors.initials: Q
authors.lastname: Chen
authors.forename: Siwen
authors.initials: S
authors.lastname: Liu
authors.forename: Jifeng
authors.initials: J
authors.lastname: Feng
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Zhang
authors.forename: Senqing
authors.initials: S
authors.lastname: Chen
authors.forename: Guojian
authors.initials: G
authors.lastname: Ma
authors.forename: Ming
authors.initials: M
authors.lastname: Zhu
authors.forename: Yuanying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Yu
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein