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Huai-rong Luo, Guang-chou Tu, Ya-ping Zhang

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

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 AlDH₂² allele have higher levels of acetaldehyde in their plasma. The atypical AlDH₂² 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 AlDH₂¹ allele and the atypical AlDH₂² 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 AlDH₂² allele was found to be 12%.

Clinical Chemical Laboratory Medicine, Walter de Gruyter

Print ISSN: 1434-6621
Volume: 39, 12/2001
Pages: 1195 - 1197

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