Patel U A, Perry M, Crane-Robinson C
Biophysics Laboratories, University of Portsmouth, UK.
Eur J Clin Invest. 1995 Feb;25(2):132-7. doi: 10.1111/j.1365-2362.1995.tb01538.x.
The constitutive DNA from members of four families showing predisposition to breast cancer was amplified by PCR in the region of exons 5, 6, 7 and 8 of the p53 proto-oncogene. Single-strand conformation polymorphism (SSCP) gels were used to compare patient DNA with mutant and wild-type control samples. No cases of anomalous mobility were observed in samples from the susceptible families. The lack of inherited mutations was confirmed for exons 5 and 7 by solid-phase DNA sequencing. The results lend further support to the view that inherited mutations in p53 alleles are not a significant contributor to breast cancer predisposition and it is not, therefore, clinically worthwhile to screen predisposed or potentially predisposed families for germline mutations in the p53 gene.
对四个显示出乳腺癌易感性的家族成员的组成性DNA，在p53原癌基因的外显子5、6、7和8区域进行PCR扩增。使用单链构象多态性（SSCP）凝胶将患者DNA与突变型和野生型对照样本进行比较。在易感家族的样本中未观察到异常迁移情况。通过固相DNA测序证实外显子5和7不存在遗传性突变。这些结果进一步支持了以下观点：p53等位基因的遗传性突变不是乳腺癌易感性的重要因素，因此，对易感或潜在易感家族进行p53基因种系突变筛查在临床上没有价值。
