Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles.

摘要: The tandemly repeated 28-bp sequence in the 5′-terminal regulatory region of human thymidylate synthase (TSER), which has been reported to be polymorphic different populations, was surveyed 668 Chinese from 9 Han groups, 8 ethnic and 36 individuals representing a three-generation pedigree. Amplified fragments were separated by electrophoresis on 4% agarose gel. In addition double triple repeats TSER, we also detected novel quintuple repeat this region. transient expression activity TSER with is almost same as that repeat. All three alleles type (2, 3, 5) further confirmed sequencing. frequencies allele 2 3 18.82 81% totally unrelated samples, respectively, while frequency variable populations range 62 95%. On basis sequences alleles, existence tandem each might explained slipped-strand mispairing during DNA replication.