title: [Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China].
abstract: OBJECTIVE
  To investigate the genetic polymorphism of CYP2F1 gene, a member of CYP450 gene family in the healthy population and the patients with nasopharyngeal carcinoma (NPC) of Guangdong province, and furthermore analyze the relationship between CYP2F1 genetic polymorphism and the risk of developing NPC.
  
  
  METHODS
  By direct gene sequencing, all of 10 exons of CYP2F1 gene were detected in 40 peripheral blood specimens of patients with primary NPC. For the genetic polymorphism with high allelic frequency, mismatch PCR-RFLP technique was developed to identify the different frequency between 368 NPC cases and 344 cancer-free controls.
  
  
  RESULTS
  There were totally 35 SNPs identified in all of 10 exons and exon-intron junctions of CYP2F1 gene from 40 NPC patients, which included 10 missense mutations and 1 frame shift mutation. The most important mutation was C insertion located in 15-16 bp, which caused the frame shift. The allelic frequency of C insertion was 25%. However, there was no significant difference found between 368 NPC cases and 344 controls in allelic frequency of 15-16 bp C insertion mutation (P>0.05).
  
  
  CONCLUSIONS
  A lot of genetic polymorphism of CYP2F1 gene is found in Guangdong population of China. However, no single genetic polymorphism associated with the individual susceptibility to NPC can be identified. The cooperated operations with multiple genetic polymorphisms of one or more genes may be critical factors contributing to the development and progression of NPC.
authors.affiliation: Department of Pathology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 P. R. China.
authors.forename: Ju-hong
authors.initials: JH
authors.lastname: Jiang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Li
authors.forename: Guang
authors.initials: G
authors.lastname: Su
authors.forename: Wei-hua
authors.initials: WH
authors.lastname: Jia
authors.forename: Ru-hua
authors.initials: RH
authors.lastname: Zhang
authors.forename: Xing-juan
authors.initials: XJ
authors.lastname: Yu
authors.forename: Meng
authors.initials: M
authors.lastname: Zhang
authors.forename: Jian-ming
authors.initials: JM
authors.lastname: Wen
authors.forename: Yi-xin
authors.initials: YX
authors.lastname: Zeng
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072467:Cytochrome P450 Family 2; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009303:Nasopharyngeal Neoplasms / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D003577:Cytochrome P-450 Enzyme System; C110332:CYP2F1 protein, human; D000072467:Cytochrome P450 Family 2