Garte S J, Trachman J, Crofts F, Toniolo P, Buxbaum J, Bayo S, Taioli E
Nelson Institute of Environmental Medicine, New York University Medical Center, New York, N.Y. 10016, USA.
Hum Hered. 1996 May-Jun;46(3):121-7. doi: 10.1159/000154339.
We present the genotype distribution of the CYP1A1 gene in a sample of over 300 subjects of various ethnic origins. Genotypes are presented as composites of eight possible alleles, taking into account the three major polymorphisms, including a recently described African-American-specific MspI RFLP. A new nomenclature system is presented for clarifying the various haplotypes. Interesting interracial differences in allelic frequencies and admixture rates were observed for the three polymorphisms. Because of the importance of the CYP1A1 gene (which encodes the aromatic hydrocarbon hydroxylase) as a biomarker of genetic susceptibility to environmental carcinogens such as polycyclic aromatic hydrocarbons, these data may provide a useful reference for future studies of relationships between CYP1A1 genotype and disease susceptibility.
我们展示了超过300名不同种族受试者样本中CYP1A1基因的基因型分布。考虑到三种主要多态性，包括最近描述的非裔美国人特有的MspI限制性片段长度多态性，基因型以八个可能等位基因的组合形式呈现。提出了一种新的命名系统以阐明各种单倍型。观察到这三种多态性在等位基因频率和混合率方面存在有趣的种族间差异。由于CYP1A1基因（编码芳烃羟化酶）作为对多环芳烃等环境致癌物遗传易感性的生物标志物具有重要性，这些数据可能为未来关于CYP1A1基因型与疾病易感性之间关系的研究提供有用的参考。
