title: Simultaneous detection of CYP3A5 and MDR1 polymorphisms based on the SNaPshot assay.
abstract: BACKGROUND
  The 6986A>G polymorphism for CYP3A5 and the -129T>C, 1236C>T, 2677G>T/A, and 3435C>T polymorphisms for MDR1 are considered the major genetic factors affecting a range of drugs' metabolism and transport. Simultaneous genotyping of these five polymorphisms would be useful for estimating the therapeutic effects of their related drugs.
  
  
  METHODS
  We have described a SNaPshot assay that can simultaneously detect all the five polymorphisms based on multiplex PCR and minisequencing reaction. A total of 168 unrelated Chinese DNA samples were used to establish and evaluate the assay.
  
  
  RESULTS
  The different genotypes of the five polymorphisms could be determined by peak retention time and colors. DNA sequencing was performed on samples randomly selected from each of the genotype groups detected by SNaPshot assay, and the results indicated 100% concordance.
  
  
  CONCLUSIONS
  The SNaPshot assay for the CYP3A5 and MDR1 five polymorphisms detection was accurate, automated, and cost-effective.
authors.affiliation: School of Basic Medical Sciences, Southern Medical University, Guangzhou, PR China.
authors.forename: Liang
authors.initials: L
authors.lastname: Li
authors.forename: Chuan-Jiang
authors.initials: CJ
authors.lastname: Li
authors.forename: Yan-Jun
authors.initials: YJ
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.forename: Hai-Xia
authors.initials: HX
authors.lastname: Jiang
authors.forename: Bo
authors.initials: B
authors.lastname: Si-Tu
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D001483:Base Sequence; D051544:Cytochrome P-450 CYP3A / Q000235:genetics*; D017931:DNA Primers; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D017931:DNA Primers; C510164:CYP3A5 protein, human; D051544:Cytochrome P-450 CYP3A