Carbone D, Chiba I, Mitsudomi T
Navy Medical Oncology Branch, National Cancer Institute, Bethesda, Maryland 20889-5105.
Oncogene. 1991 Sep;6(9):1691-2.
This report describes a rare polymorphism at codon 213 (silent alteration of CGA to CGG) within the coding region of the p53 gene. The rare polymorphic allele was present in six cases out of 189 lung and breast cancer DNAs analyzed (3.2%) and resulted in the loss of a TaqI site. This allele could be mistaken for a mutation when screening methods of mutation analysis are used without comparison with normal tissue DNA.
本报告描述了p53基因编码区内第213密码子处一种罕见的多态性（CGA silent alteration of CGA to CGG）。在分析的189份肺癌和乳腺癌DNA样本中，有6份（3.2%）存在这种罕见的多态性等位基因，该等位基因导致了一个TaqI酶切位点的缺失。当使用突变分析筛查方法而不与正常组织DNA进行比较时，这种等位基因可能会被误认为是一种突变。
