Abstract:

Objective To investigate the distribution of acetaldehyde dehydrogenase 2 （ALDH2） gene polymorphism,and to evaluate the feasibility of allele specific fluorescence polymerase chain reaction （PCR）for ALDH2 gene polymorphism. Methods Allele specific fluorescence PCR and DNA sequencing were used for ALDH2 genotyping in peripheral blood of 375 patients. Gene chip method was adopted to determine the specimens with inconsistent results by the 2 methods. Results Among the 375 specimens,248 cases （66.1%） of ALDH2*1/ 1,107 cases （28.5%） of ALDH2*1/ 2 and 20 cases （5.4%） of ALDH2*2/ 2 were determined by allele specific fluorescence PCR,while 246 cases （65.6%） of ALDH2*1/ 1,108 cases （28.8%） of ALDH2*1/ 2 and 21 cases （5.6%） of ALDH2*2/ 2 were determined by DNA sequencing,respectively. There was no statistical significance for ALDH2 genotyping between allele specific fluorescence PCR and DNA sequencing （χ²=1.33,P=0.392）,with good consistency（κ=0.978,P<0.001）. The coincidence rate was 98.9% （371/375）between the 2 methods. For 4 cases with inconsistent results,the results of gene chip method was in agreement with those by allele specific fluorescence PCR. Conclusions Allele specific fluorescence PCR for ALDH2 genotyping is feasible,and could meet the requirements of clinical ALDH2 gene determination.

Key words: Acetaldehyde dehydrogenase 2, Gene polymorphism, Allele specific fluorescence polymerase chain reaction