Population differences in the human arsenic (+3 oxidation state) methyltransferase (AS3MT) gene polymorphism detected by using genotyping method.
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.
Fujihara
Junko
J
Department of Legal Medicine, Faculty of Medicine, Shimane University, Izumo, Shimane, Japan.
Kunito
Takashi
T
Agusa
Tetsuro
T
Yasuda
Toshihiro
T
Iida
Reiko
R
Fujii
Yoshimi
Y
Takeshita
Haruo
H
D001151:Arsenic / Q000378:metabolism; D020261:Arsenic Poisoning / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan; D007723:Korea; D008780:Methyltransferases / Q000235:genetics*; D008986:Mongolia; D009154:Mutation; D009276:Namibia; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D014421:Turkey; D014874:Water Pollutants, Chemical / Q000378:metabolism / Q000506:poisoning; D044465:White People / Q000235:genetics
D014874:Water Pollutants, Chemical; D008780:Methyltransferases; C505756:AS3MT protein, human; D001151:Arsenic