title: Simultaneous genotyping of CYP2C9*2, *3, and 5' flanking region (C-1189T) polymorphisms in a Spanish population through a new minisequencing multiplex single-base extension analysis.
abstract: OBJECTIVE
  To conduct a descriptive study on the prevalence of relevant cytochrome P450 2C9 (CYP2C9) polymorphisms--the *2, *3, and 5' flanking region (C-1189T)--in a Spanish population using a new minisequencing fluorescent method through a multiplex single base extension (SBE) analysis.
  
  
  METHODS
  The method simultaneously and accurately genotypes the CYP2C9 polymorphisms studied and is available as a commercial protocol (SNaPshot). Various strategies, including restriction fragment length polymorphism (RFLP) and Taqman, were used to validate the methodology.
  
  
  RESULTS
  The frequencies of alleles CYP2C9*2 (12%) and *3 (6.2%) were similar to those described for other Caucasian populations. The frequency of allele t at the 5' flanking region was 62%, which is close to the percentage reported in Japanese and French populations. The four haplotypes inferred in our samples and their frequencies were consistent with those reported in other studies.
  
  
  CONCLUSIONS
  Our results confirm previously reported Caucasian frequencies for the CYP2C9*2 and *3 alleles and, for the first time, provide data on the frequency of the CYP2C9 5' flanking region (C-1189T), a recently described polymorphism, in a Spanish population. The SBE technique detects unequivocally the three polymorphisms in a single reaction, which makes it suitable for the analysis of CYP2C9 in the many therapeutic situations in which it is involved.
authors.affiliation: Departamento Farmacologia y Química Terapeutica, Facultad de Medicina, IDIBAPS, Universidad de Barcelona, Casanova 143, 08036 Barcelona, Spain.
authors.forename: Sergi
authors.initials: S
authors.lastname: Mas
authors.forename: Anna
authors.initials: A
authors.lastname: Crescenti
authors.forename: Jose M
authors.initials: JM
authors.lastname: Vidal-Taboada
authors.forename: Salvador
authors.initials: S
authors.lastname: Bergoñon
authors.forename: Fernando
authors.initials: F
authors.lastname: Cuevillas
authors.forename: Nuria
authors.initials: N
authors.lastname: Laso
authors.forename: Rafael
authors.initials: R
authors.lastname: Molina
authors.forename: Antonio
authors.initials: A
authors.lastname: Ballesta
authors.forename: Amalia
authors.initials: A
authors.lastname: Lafuente
mesh_terms: D024506:5' Flanking Region; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065729:Cytochrome P-450 CYP2C9; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D013030:Spain
chemical_list: C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; D001189:Aryl Hydrocarbon Hydroxylases