title: Genotyping of mitochondrial aldehyde dehydrogenase in blood samples using allele-specific oligonucleotides: comparison with phenotyping in hair roots.
abstract: Deficiency of mitochondrial aldehyde dehydrogenase (ALDH I) is an inborn error of metabolism that is responsible for acute alcohol sensitivity (flushing response) observed only in Orientals of Mongoloid origin. Our previous studies using electrophoretic enzyme detection have shown that this deficiency is prevalent among Japanese, Chinese, and other Orientals. We report here the genotyping of ALDH I locus in blood samples of 218 South Korean individuals by means of hybridization analysis with allele-specific oligonucleotide probes and enzymatically amplified human genomic DNA. The results of genotyping are compared with the phenotype analysis in hair roots of the same individuals. Among 62 apparently deficient phenotypes, 58 heterozygote and 4 homozygote deficient genotypes were observed.
authors.affiliation: Institut für Humangenetik der Universität, Hamburg, Federal Republic of Germany.
authors.forename: H W
authors.initials: HW
authors.lastname: Goedde
authors.forename: S
authors.initials: S
authors.lastname: Singh
authors.forename: D P
authors.initials: DP
authors.lastname: Agarwal
authors.forename: G
authors.initials: G
authors.lastname: Fritze
authors.forename: K
authors.initials: K
authors.lastname: Stapel
authors.forename: Y K
authors.initials: YK
authors.lastname: Paik
mesh_terms: D000444:Aldehyde Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D015342:DNA Probes; D005838:Genotype; D006197:Hair / Q000032:analysis; D006801:Humans; D007525:Isoelectric Focusing; D007723:Korea; D007962:Leukocytes / Q000648:ultrastructure; D015345:Oligonucleotide Probes; D010641:Phenotype
chemical_list: D015342:DNA Probes; D015345:Oligonucleotide Probes; D000444:Aldehyde Dehydrogenase