Title: Mutation characteristics of DNA polymerase β gene in human esophageal cancer
Abstract: Aim:To detect the mutation characteristics of DNA polymerase β gene (polβ gene) in human esophageal cancer (HEC) in comparison with the results reported abroad. Methods:The total RNA was extracted from 75 HEC samples and 4 normal control samples. The RT PCR was carried out and the PCR product was cloned and sequenced with Sanger's method subsequently.Results:The mutation rate of HEC was 36% (27/75) and the forms of those mutations included A:G transition with frequency 66.7%(18/27),including 375 nt A→G (Ile→Val), 466 nt G→A(Gly→Glu), 660 nt A→G (Arg→Gly), 670 nt A→G(silent mutation), and 740 nt A→G (silent mutation).T:C transition with frequency 18.5 %(5/27), including 454 nt T→C(Phe→Ser),and 665 nt T→C (Gly→Gly); G:T transversion with frequency 18.5 %(5/27), including 462 nt G→T (Glu→ premature termination at 116aa);A:T transversion with frequency 18.5%(5/27), including 613 nt A→T(Lys→Ile), 737 nt A→T (silent mutation);G:C transversion with frequency 7.4% (2/27), including 648 nt G→C(Gly→Arg);deletion of 58 bp from 177 to 234 nt combined with a frameshift and premature termination, and the mutation frequency was 37%(10/27). Conclusion: The polβ gene mutation characteristics in HEC were as follows:a) mutation rate is up to 36% (27/75);b)varied mutation forms, including G:T transversion and A:G transition as hot spots;c)two truncated polβ proteins were produced from two premature terminations: one has a length of 116 aa, and the other, 26 aa.
Publication Year: 2003
Publication Date: 2003-01-01
Language: en
Type: article
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