Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population.

摘要: A deficiency in DNA repair is associated with increased cancer risk. Inter-individual variations capacity observed humans may result from genetic polymorphisms genes. In order to provide a basis for future functional and molecular epidemiology studies on susceptibility, we screened 35 individuals coding regions of XPA XPB genes involved nucleotide excision (NER). Relevant cDNA sequences were amplified by PCR, sequenced fluorescently labeled terminators analyzed automated sequencer. Two found: AAA-->AGA (445A>G; GenBank M31899) causing K117R substitution GGC-->TGC (1299G>T; G402C exchange. Also, two detected: CGA-->CAA (709G>A; D14533) R228Q exchange, A-->G (23A>G; the 5' non-coding region gene. The three aforementioned amino acid substitutions uncommon this population (1.4%). contrast, located 4 nucleotides upstream ATG start codon was frequent (57%). To our best knowledge first report these sequence variants. location evolutionary conserved suggest that they be significance.