应用蛋白质截短技术检测ATM突变(英文)

ATM mutation detection using PTT technique

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 13 4例乳腺癌病人 ,其中 10 0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 :13 4例乳腺癌病人中检测到 1例ATM截短生殖细胞系突变。结论

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.