应用蛋白质截短技术检测ATM突变

摘要

目的: 研究蛋白质截短技术(PTT)在ATM等大基因突变检测中的可行性. 方法:应用PTT技术分析134例乳腺癌病人,其中100例有乳腺癌家族史(1990～1995). 所有病例无生殖细胞BRCA1和BRCA2基因突变.全长9.2kb的编码区被分成9个重叠片段进行PTT分析.结果:134例乳腺癌病人中检测到1例ATM截短生殖细胞系突变.结论:PTT可用于筛选翻译终止突变.%Objective To study whether protein truncation test (PTT) is suitable for mutation-detection in large-size gene,such as ATM.Method 134 breast cancer patients, 100 of these with a family history of breast cancer (1990～1995), were analyzed using PTT technique. All cases were excluded germ-line mutations in BRCA1, and BRCA2 genes in these patients. The entire coding region of 9.2 kb was divided into 9 overlapping fragments for PTT analysis.Result One ATM truncated germ-lie mutation was detected in these breast cancer samples.Conclusion PTT is a reliable mutation-screening technique for translation-terminating mutations.