Original ArticlesCorrelation between genotype and phenotype of the human arylamine N-acetyltransferase type 1 (NAT1)
Section snippets
Volunteers
Venous blood samples were taken from 314 non-smoking healthy German male volunteers (19–48 years of age) after written informed consent. For the phenotyping assay, whole blood samples were drawn into 10-mL vials with ethylene diamine tetraacetic acid as anticoagulant and stored at −80°. Representative subsets of the frequent genotypes ∗4/∗4 and ∗4/∗10 were analyzed. All samples from all other genotypes were included, except a few from which not enough blood was available. The person performing
Results
Table 1 shows the NAT1 alleles which were tested in our population. The frequencies of the NAT1 genotypes and alleles detected in our population are given in Table 2aand 2b. The genotype frequencies (Table 2a) were not significantly different from the predictions based on the allele frequencies (Table 2b) according to the Hardy–Weinberg theorem. The allele frequencies were also not significantly different (tested by Fisher’s exact test) from frequencies in other large Caucasian populations
Discussion
In our study, there was no significant difference between the activity of the ∗4/∗4, ∗4/∗10, and ∗10/∗10 individuals using PABA as substrate. Since NAT1∗10 does not code for any amino acid exchange, this finding should be similarly valid for all other substrates of NAT1, in contrast to the amino acid polymorphisms which may have differential impact with different substrates. The results for NAT1∗10 described in earlier studies are conflicting. Badawi et al. [13] measured NAT1 activity using
Acknowledgements
The authors thank Mrs. Maszynski and Mrs. Pietsch for skillful performance of the polymerase chain reaction analyses. This work was partially supported by Grant 01EC9408 from the German Federal Ministry for Education, Science, Research and Technology (BMBF).
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