土耳其人群中的芳胺N - 乙酰基转移酶（NAT2）基因型。

Arylamine N-acetyltransferase (NAT2) genotypes in a Turkish population.

作者信息

Aynacioglu A S, Cascorbi I, Mrozikiewicz P M, Roots I

机构信息

Institute of Clinical Pharmacology, University Clinic Charité, Humboldt University of Berlin, Germany.

出版信息

Pharmacogenetics. 1997 Aug;7(4):327-31. doi: 10.1097/00008571-199708000-00008.

DOI:10.1097/00008571-199708000-00008

PMID:9295061

Abstract

A group of 303 unrelated Turkish subjects from south-east Anatolia was genotyped for seven NAT2 mutations by polymerase chain reaction-restriction fragment length polymorphism. Genotypes associated with slow acetylation were identified in 57.4% (95%-confidence limits, 51.6%-63.1%). Allele frequencies were NAT2*4 (wild type, 23.1%), *5A (1.3%), *5B (35.6%), *5C (4.8%), *6A (30.5%), *7B (4.5%), and *12A (0.2%). A mutation G191A was not detected. Ambiguous mutation linkages were checked by molecular genetic linkage analysis and DNA sequencing. NAT2-alleles in Turks are similarly distributed as in Middle European ethnicities.

摘要

通过聚合酶链反应-限制性片段长度多态性技术，对来自安纳托利亚东南部的303名无亲缘关系的土耳其受试者进行了7种NAT2突变的基因分型。在57.4%（95%置信区间，51.6%-63.1%）的受试者中鉴定出与慢乙酰化相关的基因型。等位基因频率分别为NAT2*4（野生型，23.1%）、*5A（1.3%）、*5B（35.6%）、*5C（4.8%）、*6A（30.5%）、7B（4.5%）和12A（0.2%）。未检测到G191A突变。通过分子遗传连锁分析和DNA测序检查了模糊的突变连锁。土耳其人的NAT2等位基因分布与中欧种族相似。