Genotyping of mitochondrial aldehyde dehydrogenase in blood samples using allele-specific oligonucleotides: comparison with phenotyping in hair roots

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 deficien...

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Bibliographic Details
Published in:Human genetics 1989-03, Vol.81 (4), p.305-307
Main Authors: GOEDDE, H. W, SURJIT SINGH, AGARWAL, D. P, FRITZE, G, STAPEL, K, PAIK, Y. K
Format: Article
Language:English
Subjects:
Aldehyde Dehydrogenase - deficiency
Aldehyde Dehydrogenase - genetics
Alleles
Biological and medical sciences
DNA Probes
Errors of metabolism
Genotype
Hair - analysis
Humans
Isoelectric Focusing
Korea
Leukocytes - ultrastructure
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Oligonucleotide Probes
Phenotype
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00283679