Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A5*3 and *6, in a Japanese population

Pharmacogenetics. 2002 Jun;12(4):331-4. doi: 10.1097/00008571-200206000-00009.


In this study, we established useful and reliable methods for the direct detection of the variants of CYP3A5 gene by polymerase chain reaction (PCR) and DdeI restriction analysis. The frequency of CYP3A5 related SNPs in 200 healthy Japanese male subjects was determined. The homozygous wild-type (*1/*1) frequency was 7.0% (14/200), the heterozygous (*1/*3) frequency was 32.5% (65/200) and the homozygous mutant-type (*3/*3) frequency was 60.5% (121/200). The *6 allele was not detected in any of the Japanese individuals. This result suggests that an estimated 40% of the Japanese express relatively high levels of metabolically active CYP3A5 protein. The proposed detection assays are useful for screening the CYP3A5 related SNPs in pharmacogenetic research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cytochrome P-450 CYP3A
  • Cytochrome P-450 Enzyme System / blood
  • Cytochrome P-450 Enzyme System / genetics*
  • DNA / blood
  • DNA / metabolism
  • DNA Primers / chemistry
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Gene Frequency
  • Genetic Variation
  • Heterozygote
  • Homozygote
  • Humans
  • Japan / epidemiology
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide / genetics*


  • DNA Primers
  • DNA
  • Cytochrome P-450 Enzyme System
  • CYP3A protein, human
  • CYP3A5 protein, human
  • Cytochrome P-450 CYP3A
  • endodeoxyribonuclease DdeI
  • Deoxyribonucleases, Type II Site-Specific