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Population differences in the human arsenic (+ 3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method

Journal Article · · Toxicology and Applied Pharmacology
 [1];  [2];  [3];  [4];  [5];  [1];  [1]
  1. Department of Legal Medicine, Faculty of Medicine, Shimane University, Izumo, Shimane 693-8501 (Japan)
  2. Department of Environmental Sciences, Faculty of Science, Shinshu University, Asahi 3-1-1, Matsumoto, Nagano 390-8621 (Japan)
  3. Center for Marine Environmental Studies (CMES), Ehime University, Bunkyo-cho 2-5, Matsuyama, Ehime 790-8577 (Japan)
  4. Division of Medical Genetics and Biochemistry, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Fukui 910-1193 (Japan)
  5. Division of Legal Medicine, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Fukui 910-1193 (Japan)

Arsenic poisoning from drinking groundwater is a serious problem, particularly in developing Asian countries. Human arsenic (+ 3 oxidation state) methyltransferase (AS3MT) is known to catalyze the methylation of arsenite. Recently, a single nucleotide polymorphism (SNPs; rs17885947, M287T (T860C)) in the AS3MT gene was shown to be related to enzyme activity and considered to be related to genetic susceptibility to arsenic. In the present study, a useful genotyping method for M287T was developed using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Applying this method, the genotype distribution of M287T in Ovambo (n = 185), Turkish (n = 191), Mongolian (n = 233), Korean (n = 200), and Japanese (n = 370) populations were investigated. The mutation frequencies in Asian populations were relatively lower than those of African and Caucasian populations, including those from previous studies: the frequencies of mutation in the Mongolian, Korean, and Japanese populations were 0.040, 0.010, and 0.010, respectively. In the course of this study, a PCR-based genotyping method that is inexpensive and does not require specialized equipment was developed. This method could be applied to a large number of residents at risk for arsenic poisoning.

OSTI ID:
21077872
Journal Information:
Toxicology and Applied Pharmacology, Journal Name: Toxicology and Applied Pharmacology Journal Issue: 3 Vol. 225; ISSN TXAPA9; ISSN 0041-008X
Country of Publication:
United States
Language:
English

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