Polymorphic mutations in the polb gene promoter and their impact on transcriptional activity.

ABSTRACT:

Background

DNA polymerase β is one of the key enzymes involved in DNA damage repair and its proper expression is strictly controlled within different cells. We previously reported that three genetic mutations in the promoter region of the polb gene are prevalent in the Chinese Han population and two types of mutation are associated with thymic hyperplasia. The purpose of this study was to explore whether other mutated sites exist within the promoter region of the polb gene.

Methods

Genomic DNAs of 421 healthy Chinese Han individuals were extracted from whole blood samples and used for gene amplification of the promoter region of the polb gene. After gel purification, PCR amplicons were sequenced by the Sanger sequencing method and used for sequence alignment with the Laserge

SUBMITTER: Wu Q 

PROVIDER: S-EPMC8930491 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature