Estimation of N-­acetyltransferase 2 haplotypes

dc.contributor.authorBlaszkewicz, Meinolf
dc.contributor.authorBolt, Hermann M.
dc.contributor.authorDannappel, Doris
dc.contributor.authorGolka, Klaus
dc.contributor.authorMirabutaleb, Samimi
dc.contributor.authorSelinski, Silvia
dc.date.accessioned2006-03-16T14:14:09Z
dc.date.available2006-03-16T14:14:09Z
dc.date.issued2006-03-16T14:14:09Z
dc.description.abstractN­Acetyltransferase 2 (NAT2) genotyping may result in a considerable percentage in several ambiguous allele combinations. PHASE 2.1 is a statistical program which is designed to estimate the probability of different allele combinations. We have investigated haplotypes of 2088 subjects genotyped for NAT2 according to standard PCR/RFLP methods. In 856 out of 2088 cases the genotype was clearly defined by PCR/RFLP only. In many of the remaining cases the program clearly defined the most probable allele combination: In the case of *5A/*6C, *5B/*6A the probability for *5B/*6A is 99% whereas the alternative allele combination *5A/*6C can be neglected. Other combinations cannot be allocated with a comparable high probability. For example the allele combination *5A/*5C, *5B/*5D provides for *5A/*5C a probability of 69% whereas the estimation for *5B/*5D allele is only 31%. In the two most often observed constellations in our data [(*12A/*5B, *12C/*5C); (*12A/*6A, *12B/*6B, *4/*6C)] the probability of allele combination was ascertained as follows: *12A/*5B, 98%; *12C/*5C, 1.4% and *12A/*6A, 82%; *4/*6C, 17%; *12B/*6B, 0%. The estimation of the NAT2 haplotype is important because the assignment of the NAT2 alleles *12A, *12B or *13 as a rapid or slow genotype has been discussed controversially. Otherwise the classification of alleles in subjects which are not showing a clearly allocation can result in a rapid or slow acetylation state. This assignment has an important role in survey of bladder cancer cases in the scope of occupational exposure with aromatic amines.de
dc.format.extent155682 bytes
dc.format.extent63293 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypeapplication/postscript
dc.identifier.urihttp://hdl.handle.net/2003/22240
dc.identifier.urihttp://dx.doi.org/10.17877/DE290R-14227
dc.language.isoen
dc.subjectNAT2 genotypingen
dc.subjectPHASE 2.1en
dc.subjectSingle nucleotide polymorphismen
dc.subject.ddc004
dc.titleEstimation of N-­acetyltransferase 2 haplotypesen
dc.typeTextde
dc.type.publicationtypereporten
dcterms.accessRightsopen access

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