Kawajiri K, Nakachi K, Imai K, Yoshii A, Shinoda N, Watanabe J
Department of Biochemistry, Saitama Cancer Center Research Institute, Japan.
FEBS Lett. 1990 Apr 9;263(1):131-3. doi: 10.1016/0014-5793(90)80721-t.
A good correlation was observed between enhanced lung cancer risk and restriction fragment length polymorphisms (RFLPs) of the P450IA1 gene with the restriction enzyme MspI. Genotype frequencies of 0.49 for the predominant homozygote, 0.40 for the heterozygote, and 0.11 for the homozygous rare allele were observed in a healthy population. Among lung cancer patients, the frequency of homozygous rare allele of P450IA1 gene was found to be about 3-fold higher than that among healthy population, and this difference was statistically significant. This is the first report to identify the genetically high risk individuals to lung cancer at the gene level.
在肺癌风险增加与P450IA1基因经限制性内切酶MspI作用后的限制性片段长度多态性（RFLP）之间观察到良好的相关性。在健康人群中观察到优势纯合子的基因型频率为0.49，杂合子为0.40，纯合罕见等位基因为0.11。在肺癌患者中，发现P450IA1基因纯合罕见等位基因的频率比健康人群高约3倍，且这种差异具有统计学意义。这是第一份在基因水平上识别肺癌遗传高危个体的报告。
