CORE--MOLECULAR ANALYSIS OF P53 TUMOR SUPPRESSOR GENE

该计划成功的关键要求之一将是 在体质疾病中识别杂合性p53突变的能力 先证者及其家人的组织。这个项目的基础是 对相对大量的样本进行检查，以确定可能存在的 许多不同的单碱基突变。这个项目的成功需要 P53基因突变的准确、快速鉴定 无论是构成还是肿瘤组织。这个核心已经被提议用来 开发必要的技术来识别这些突变，然后 检查队列中的先证者或最近的受影响亲属 确定这些家系中p53突变的频率，并 个人。

One of the critical requirements for the success of this program will be the ability to identify heterozygous p53 mutations in the constitutional tissues of probands and their families. The foundation of this program is the examination of relatively large numbers of samples for what could be many different single base mutations. The success of this project requires the accurate and rapid identification of mutations in the p53 gene from either constitutional or tumor tissues. This core has been proposed to develop the techniques necessary to identify these mutations, and then to examine the probands or nearest affected relatives from the cohorts to determine the frequency of p53 mutations in these families and individuals.