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Detection of Usual and Atypical Aldehyde Dehydrogenase Alleles by Mismatch Amplification Mutation Assay

Abstract The genotypes of liver mitochondrial high-affinity aldehyde dehydrogenase-2 (ALDH2) are strongly associated with the drinking behavior and the alcohol liver diseases, since the individuals with atypical AlDH2 2 allele have higher levels of acetaldehyde in their plasma. The atypical AlDH2 2 allele has a nucleotide base transition (G→A) in its exon 12. Based on this point mutation, we developed a rapid, reliable and inexpensive method, mismatch amplification mutation assay (MAMA), for the determination of human ALDH2 usual and atypical alleles. Two pairs of primers were designed for the amplification of the usual AlDH2 1 allele and the atypical AlDH2 2 allele, respectively. If the sample for the detection was heterozygous, it could be amplified by both of the primers. The product of polymerase chain reaction (PCR) of ALDH2 exon 12 could be easily screened by electrophoresis on a 2% agarose gel. The results of the MAMA method were further confirmed by sequencing. In the total of fifty samples from unrelated healthy Chinese Han people from Wuhan, China, the frequency of atypical AlDH2 2 allele was found to be 12%.