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本文引用的文献

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Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis.NAT1和NAT2的分子遗传学与功能：在芳香胺代谢及致癌作用中的角色
Mutat Res. 2002 Sep 30;506-507:65-77. doi: 10.1016/s0027-5107(02)00153-7.
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A precaution in the detection of heterozygotes by sequencing: comparison of automated DNA sequencing and PCR-restriction fragment length polymorphism methods.
Clin Chem. 2001 Jan;47(1):134-7.
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Improved detection of the T(341)C polymorphism in human N-acetyltransferase (NAT2) gene by using two complementary PCR-RFLP methods: better than automated DNA sequencing for detection of heterozygotes.
Clin Biochem. 2000 Oct;33(7):585-8. doi: 10.1016/s0009-9120(00)00165-x.
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Arylamine N-acetyltransferase 1 (NAT1) genotypes in a Lebanese population.黎巴嫩人群中的芳胺N - 乙酰基转移酶1（NAT1）基因型。
Pharmacogenetics. 2000 Feb;10(1):79-83. doi: 10.1097/00008571-200002000-00010.
5
N-Acetyltransferase genetics and their role in predisposition to aromatic and heterocyclic amine-induced carcinogenesis.N-乙酰转移酶遗传学及其在芳香族和杂环胺诱导致癌易感性中的作用。
Toxicol Lett. 2000 Mar 15;112-113:349-56. doi: 10.1016/s0378-4274(99)00226-x.
6
Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms.NAT1和NAT2乙酰化多态性的分子遗传学与流行病学
Cancer Epidemiol Biomarkers Prev. 2000 Jan;9(1):29-42.
7
Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist?药物遗传学和药物基因组学：为何这与临床遗传学家相关？
Clin Genet. 1999 Oct;56(4):247-58. doi: 10.1034/j.1399-0004.1999.560401.x.
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1998 International Meeting on the Arylamine N-Acetyltransferases: synopsis of the workshop on nomenclature, biochemistry, molecular biology, interspecies comparisons, and role in human disease risk.
Drug Metab Dispos. 1999 Sep;27(9):957-9.
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Polymorphic human cytochrome P450 enzymes: an opportunity for individualized drug treatment.多态性人类细胞色素P450酶：个体化药物治疗的契机。
Trends Pharmacol Sci. 1999 Aug;20(8):342-9. doi: 10.1016/s0165-6147(99)01363-2.
10
Impact of genetic polymorphisms of the beta2-adrenergic receptor on albuterol bronchodilator pharmacodynamics.β2-肾上腺素能受体基因多态性对沙丁胺醇支气管扩张药效学的影响。
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阿曼人群中芳胺N - 乙酰基转移酶2（nat2）基因型的分布。

Distribution of arylamine N-acetyltransferase 2 (nat2) genotypes among Omanis.

作者信息

Tanira Musbah O M, Simsek Mehmet, Al Balushi Khalid, Al Lawatia Khulood, Al Barawani Hameedah, Bayoumi Riad A

机构信息

Departments of Pharmacology and.

出版信息

J Sci Res Med Sci. 2003 Aug;5(1-2):9-14.

PMID:24019729
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3174728/
Abstract

OBJECTIVE

to determine the genotypes of arylamine N-acetyltransferase (NAT2) among 127 unrelated apparently healthy Omanis.

METHOD

Identify the most common known polymorphisms of NAT*2 gene namely, G(191)A, C(282)T, C(341)T, C(481)T, G(590)A, A(803)G and G(857)A using PCR-RFLP analysis.

RESULTS

Eleven allele variants (3 alternative) and 30 different genotypes were determined. The commonest alleles were found to be NAT5B, NAT26A and NAT*4 with corresponding frequencies of 0.362, 0.248 and 0.189 respectively. The overall frequency of rapid acetylator alleles was 0.25.

CONCLUSION

A new allele variant containing G(590)A, C(282)T and T(341)C polymorphisms was found in one subject (was named NAT2*5J). The commonest genotypes were found to be 5B/5B, 5B/6A, 4/5B, 4/6A with frequencies 0.165, 0.157, 0.118, 0.110 and 0.079 respectively.

摘要

目的

确定127名无亲缘关系的表面健康的阿曼人的芳胺N - 乙酰转移酶（NAT2）基因型。

方法

使用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP分析）鉴定NAT*2基因最常见的已知多态性，即G(191)A、C(282)T、C(341)T、C(481)T、G(590)A、A(803)G和G(857)A。

结果

确定了11个等位基因变体（3个替代型）和30种不同基因型。发现最常见的等位基因是NAT5B、NAT26A和NAT*4，其相应频率分别为0.362、0.248和0.189。快速乙酰化酶等位基因的总体频率为0.25。

结论

在一名受试者中发现了一种新的包含G(590)A、C(282)T和T(341)C多态性的等位基因变体（命名为NAT2*5J）。发现最常见的基因型是5B/5B、5B/6A、4/5B、4/6A，频率分别为0.165、0.157、0.118、0.110和0.079。