Genetic polymorphisms of arsenic methyltransferase(AS3MT)in 16 Chinese ethnic populations / 中国地方病学杂志

ABSTRACT

Objective To investigate and evaluate the polymorphism distribution of arsenic(+3 oxidation state)methyhransferase(AS3MT)5'-UTR VNTR in Chinese populations.Methods Genomic DNA was extracted from peripheral blood anti-coagulated with ACD of 1440 individuals in a standard phenol-chloroform protocol.The phenotypes of AS3MT 5'-UTR VNTR were determined by polymerase chain reaction(PCR)associated with agarose gel electrophoresis.Results Of the 1440 individuals,771(53.5%),426(29.6%),211(14.7%),16(1.1%)and 16(1.1%)were carriers of the V2/V3(AB/A2B),V3/V3(A2B/A2B),V2/V2(AB/AB),V2/V4(AB/A3B)and V3/V4(A2B/A3B)genotype,respectively.The AB(V2),A2B(V3)and A3B(V4)allele frequency was 41.9%,57.0%,1.1%respectively.The differences of AB(V2)and A2B(V3)allele frequency were all significant between the northern and southern populations respectively(χ2=23.39,χ2=33.28,P＜0.007).Conclusions In different regions the AB(V2)and A2B(V3)allele frequency is different,the AS3MT 5'-UTR VNTR polymorphism can be used to evaluate the susceptivity of arsenieosis.