Genotyping of Mitochondrial Aldehyde Dehydrogenase in Blood Samples Using Allele-specific Oligonucleotides: Comparison with Phenotyping in Hair Roots

Overview

Journal Hum Genet

Specialty Genetics

Date 1989 Mar 1

PMID 2703232

Citations 19

Authors

H W GOEDDE

S Singh

D P Agarwal

G FRITZE

K Stapel

Y K Paik

Affiliations

Soon will be listed here.

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.

Citing Articles

Aldehyde dehydrogenase 2 activation and coevolution of its εPKC-mediated phosphorylation sites.

Nene A, Chen C, Disatnik M, Cruz L, Mochly-Rosen D J Biomed Sci. 2017; 24(1):3.

PMID: 28056995 PMC: 5217657. DOI: 10.1186/s12929-016-0312-x.

Effects of genetic polymorphisms in alcohol-metabolizing enzymes on alcohol hypersensitivity and alcohol-related health problems in orientals.

Takeshita T, Morimoto K Environ Health Prev Med. 2011; 1(1):1-8.

PMID: 21432413 DOI: 10.1007/BF02931165.

Lifestyle, stress and cortisol response: Review II : Lifestyle.

Fukuda S, Morimoto K Environ Health Prev Med. 2011; 6(1):15-21.

PMID: 21432232 PMC: 2723649. DOI: 10.1007/BF02897304.

Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study.

Yin G, Kono S, Toyomura K, Moore M, Nagano J, Mizoue T Cancer Sci. 2007; 98(8):1248-53.

PMID: 17517051 PMC: 11159727. DOI: 10.1111/j.1349-7006.2007.00519.x.

Alcohol and medication interactions.

Weathermon R, Crabb D Alcohol Res Health. 2000; 23(1):40-54.

PMID: 10890797 PMC: 6761694.

References

Braun T, Bober E, Singh S, Agarwal D, GOEDDE H . Evidence for a signal peptide at the amino-terminal end of human mitochondrial aldehyde dehydrogenase. FEBS Lett. 1987; 215(2):233-6. DOI: 10.1016/0014-5793(87)80152-7. View

Wolff P . Vasomotor sensitivity to alcohol in diverse Mongoloid populations. Am J Hum Genet. 1973; 25(2):193-9. PMC: 1762515. View

Harada S, Agarwal D, GOEDDE H, Tagaki S, ISHIKAWA B . Possible protective role against alcoholism for aldehyde dehydrogenase isozyme deficiency in Japan. Lancet. 1982; 2(8302):827. DOI: 10.1016/s0140-6736(82)92722-2. View

GOEDDE H, Agarwal D, Eckey R, Harada S . Population genetic and family studies on aldehyde dehydrogenase deficiency and alcohol sensitivity. Alcohol. 1985; 2(3):383-90. DOI: 10.1016/0741-8329(85)90099-0. View

Harada S, Agarwal D, GOEDDE H . Aldehyde dehydrogenase deficiency as cause of facial flushing reaction to alcohol in Japanese. Lancet. 1981; 2(8253):982. DOI: 10.1016/s0140-6736(81)91172-7. View

Braun T, Bober E, Schaper J, Agarwal D, Singh S, GOEDDE H . Human mitochondrial aldehyde dehydrogenase: mRNA expression in different tissues using a specific probe isolated from a cDNA expression library. Alcohol Alcohol Suppl. 1987; 1:161-5. View

GOEDDE H, Agarwal D . Polymorphism of aldehyde dehydrogenase and alcohol sensitivity. Enzyme. 1987; 37(1-2):29-44. DOI: 10.1159/000469239. View

GOEDDE H, Agarwal D, Harada S, Rothhammer F, WHITTAKER J, LISKER R . Aldehyde dehydrogenase polymorphism in North American, South American, and Mexican Indian populations. Am J Hum Genet. 1986; 38(3):395-9. PMC: 1684787. View

Saiki R, Scharf S, Faloona F, Mullis K, Horn G, Erlich H . Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 1985; 230(4732):1350-4. DOI: 10.1126/science.2999980. View

10.

Yoshida A, Wang G, Dave V . Determination of genotypes of human aldehyde dehydrogenase ALDH2 locus. Am J Hum Genet. 1983; 35(6):1107-16. PMC: 1685980. View

11.

Hsu L, Tani K, Fujiyoshi T, Kurachi K, Yoshida A . Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc Natl Acad Sci U S A. 1985; 82(11):3771-5. PMC: 397869. DOI: 10.1073/pnas.82.11.3771. View

12.

GOEDDE H, Harada S, Agarwal D . Racial differences in alcohol sensitivity: a new hypothesis. Hum Genet. 1979; 51(3):331-4. DOI: 10.1007/BF00283404. View

13.

GOEDDE H, Agarwal D, Harada S . Genetic studies on alcohol-metabolizing enzymes: detection of isozymes in human hair roots. Enzyme. 1980; 25(4):281-6. DOI: 10.1159/000459265. View

14.

Hempel J, Kaiser R, Jornvall H . Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. Eur J Biochem. 1985; 153(1):13-28. DOI: 10.1111/j.1432-1033.1985.tb09260.x. View

15.

GOEDDE H, Agarwal D, Harada S, Ruofu D, Bienzle U, Kroeger A . Population genetic studies on aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity. Am J Hum Genet. 1983; 35(4):769-72. PMC: 1685745. View

16.

Hsu L, Bendel R, Yoshida A . Genomic structure of the human mitochondrial aldehyde dehydrogenase gene. Genomics. 1988; 2(1):57-65. DOI: 10.1016/0888-7543(88)90109-7. View

17.

Blin N, Stafford D . A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. 1976; 3(9):2303-8. PMC: 343085. DOI: 10.1093/nar/3.9.2303. View

18.

Wolff P . Ethnic differences in alcohol sensitivity. Science. 1972; 175(4020):449-50. DOI: 10.1126/science.175.4020.449. View

19.

Hsu L, Bendel R, Yoshida A . Direct detection of usual and atypical alleles on the human aldehyde dehydrogenase-2 (ALDH2) locus. Am J Hum Genet. 1987; 41(6):996-1001. PMC: 1684351. View