Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: Application to metabolic epidemiology

Journal Article · Wed Mar 31 23:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6288236

Lin, H J; Han, Chunya; Lin, B K ^[1]; Hardy, S ^[2]

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1. Harbor-UCLA Medical Center, Torrance, CA (United States)
2. Univ. of California, Los Angeles (United States)

The aim was to determine the population frequencies of the major slow acetylator alleles of the polymorphic N-acetyltransferase (NA T2) gene, whose locus maps to chromosome 8. The authors used allele-specific PCR amplification on 786 dried blood spots obtained from Hong Kong Chinese, US Koreans, US blacks, US Hispanics, Germans, and US whites. Their results show that four slow acetylator alleles can be detected as mutations at positions 481, 590, and 857 in the NA T2 gene. Recognized base substitutions at positions 341 and 803 need not be determined, because they were almost always associated with the 481T mutation. The known mutation at position 282 was strongly associated with the 590A mutation. The 481T, 590A, and 857A mutations accounted for virtually all of the slow acetylator alleles in Asian and white populations. The 857A mutation proved to be an Asiatic allele. The results will be useful in large-scale epidemiologic studies of cancer and other conditions potentially associated with the acetylator polymorphism. 20 refs., 3 figs., 4 tabs.

• OSTI ID: 6288236
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ACETYLATION
ACYLATION
CHEMICAL REACTIONS
CHROMOSOMES
DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
ENZYMES
EPIDEMIOLOGY
GENE MUTATIONS
HUMAN CHROMOSOME 8
HUMAN CHROMOSOMES
HUMAN POPULATIONS
HYBRIDIZATION
MUTATIONS
NEOPLASMS
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES