Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism

We found a novel A --> C change in codon 511 of the ARNT gene, which predic ted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplifica tion using mismatched primers allowed the ARNT D/N511 polymorphism to be de tected by digestion with endonuclease Tth111I. The frequency of the ARNT N5 11 allele was 0.019 in Caucasians and 0.026 in Africans. Because of the imp ortance of the ARNT gene product in the metabolism of xenobiotics, this pol ymorphism may be useful in the study of associations with metabolic phenoty pes and in pharmacogenetic studies.