Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort.

ABSTRACT:

Aim

Estimating polymorphic allele frequencies of the NADPH-CYP450 oxidoreductase (POR) gene in a Czech Slavic population.

Methods

The POR gene was analyzed in 322 individuals from a control cohort by sequencing and high resolution melting analysis.

Results

We identified seven unreported SNP genetic variations, including two SNPs in the 5' flanking region (g.4965C>T and g.4994G>T), one intronic variant (c.1899-20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared with wild-type.

Conclusion

New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly ge

SUBMITTER: Tomkova M 

PROVIDER: S-EPMC4662547 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature