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.

Low Km aldehyde dehydrogenase (ALDH2) polymorphism, alcohol-drinking behavior, and chromosome alterations in peripheral lymphocytes.

“…Exon 12 of the ALDH2 gene was amplified by 30 to 35 cycles of polymerase chain reaction (PCR; 1 min at 94'C, 10 sec at 52'C, and 30 sec at 72'C) in a Perkin-Elmer Cetus (Norwalk, CT) Thermal Cycler. Amplification primers were as previously reported (16), except that one primer (5'-CCACACTCACAGTTTTCTCTT) contained the substitution of an adenine by a thymine at the underlined portion in order to create a Ksp6321 recognition site (5'-CTCTTC) in the typical allele. PCR products were ethanol precipitated and redissolved in distilled water.…”

“…Amplification primers were the same as described previously (16). PCR products (5)(6)(7)(8)(9)(10) pl) were treated with alkali and transferred to nylon membranes, which were then baked and hybridized overnight with the 32P-ATP labeled probe (Amersham, Bucks, U.K.), for either ALDH2' (5'-GTTTTCACTTC AGTGTATG) or ALDH22 allele (5'-GTTTTCACTTTAGTGTATG).…”

Lifestyle, stress and cortisol response: Review II

“…It is also well established that long-term alcohol consumption induces endocrine abnormalities, especially in the HPA axis 26) . Three independent studies of investigators examined cortisol levels in Asian subjects who either did or did not show alcoholinduced flushing [40][41][42] . Approximately 50% of certain Asian groups are ALDH 2 deficient [40][41][42] .…”

“…Three independent studies of investigators examined cortisol levels in Asian subjects who either did or did not show alcoholinduced flushing [40][41][42] . Approximately 50% of certain Asian groups are ALDH 2 deficient [40][41][42] . ALDH 2 deficiency is very uncommon among other non-Mongolian ethnic groups [40][41][42] .…”

“…Approximately 50% of certain Asian groups are ALDH 2 deficient [40][41][42] . ALDH 2 deficiency is very uncommon among other non-Mongolian ethnic groups [40][41][42] . These studies demonstrated higher levels of cortisol following an alcohol challenge in Asians who experience alcohol-induced flushing.…”