Abstract
We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 in Caucasians and 0.026 in Africans. Because of the importance of the ARNT gene product in the metabolism of xenobiotics, this polymorphism may be useful in the study of associations with metabolic phenotypes and in pharmacogenetic studies.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Amino Acid Substitution
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Aryl Hydrocarbon Receptor Nuclear Translocator
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Black People / genetics
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Chromosomes, Human, Pair 1
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DNA-Binding Proteins*
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Female
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Humans
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Lipodystrophy / genetics
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Male
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Mutation, Missense
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Pedigree
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Receptors, Aryl Hydrocarbon / genetics*
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Transcription Factors / genetics*
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White People / genetics
Substances
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ARNT protein, human
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DNA-Binding Proteins
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Receptors, Aryl Hydrocarbon
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Transcription Factors
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Aryl Hydrocarbon Receptor Nuclear Translocator