Slow acetylator mutations in the human polymorphic N-acetyltransferase gene in 786 Asians, blacks, Hispanics, and whites: Application to metabolic epidemiology
- Harbor-UCLA Medical Center, Torrance, CA (United States)
- 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), Vol. 52:4; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Analysis of HLA-DP association with beryllium disease susceptibility in pooled exposed populations
A frequent tyrosinase gene mutation associated with type I-A (tyroinase-negative) oculocutaneous albinism in Puerto Rico
Related Subjects
HUMAN CHROMOSOME 8
RFLPS
HUMAN POPULATIONS
TRANSFERASES
GENE MUTATIONS
ACETYLATION
DNA HYBRIDIZATION
DNA SEQUENCING
EPIDEMIOLOGY
NEOPLASMS
ACYLATION
CHEMICAL REACTIONS
CHROMOSOMES
DISEASES
ENZYMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics