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주원아,김민영,이은예,박경숙 ( Won A Joo,Min Young Kim,Eun Yee Lee,Kyung Sook Park ) 한국유전학회 1995 Genes & Genomics Vol.17 No.2
Human aldehyde dehydrogenase (ALDH, E.C. 1. 2. 1. 3.) which oxidizes acetaldehyde to acteic acid during alcoholic metabolism, contains two major isozymes, the cytosolic ALDH1 and the mitochondrial ALDH2. The genotype of ALDH2 genes was typed in 311 normal Korean. For ALDH2 gene typing, genomic DNA was extracted from leukocyte and Exon 12 of ALDH2 gene was amplified by polymerase chain reaction. Amplified gene was hybridized with allele-specific oligonucleotide probe on nylon membrane and detected using colorimetric detection method. The frequencies of ALDH2 genotypes ALDH2*1|ALDH2*1, ALDH2*1|ALDH2*2 and ALDH2*2|ALDH2*2 were 60.8%, 34.1% and 5.1%, respectively. The estimated allele frequencies for ALDH2*1 and ALDH2*2 were 0.78 and 0.22, respectively. The allele frequencies of ALDH2 vary in different ethnic groups. The allele frequency of ALDH2*2 increased in Mongoloid; Korean was 0.22, Chinese was 0.24, and Japanese was 0.35, while the genotype of ALDH2*2|ALDH2*2 has not been observed yet in European populations.