Vorechovský I, Luo L, Prudente S, Chessa L, Russo G, Kanariou M, James M, Negrini M, Webster A D, Hammarström L
Department of Bioscience, NOVUM, Karolinska Institute, Huddinge, Sweden.
Eur J Hum Genet. 1996;4(6):352-5. doi: 10.1159/000472231.
Using a polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay, which amplifies individually all coding exons of the ATM gene deficient ataxia-telangiectasia (A-T), we have analyzed 10 patients with A-T for ATM mutations. Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5' splice site of intron 17, leading to exon skipping. However, most mutations were small deletions or insertions resulting in premature termination of the translation product. The development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.
利用聚合酶链反应单链构象多态性（PCR-SSCP）分析方法，该方法可单独扩增共济失调毛细血管扩张症（A-T）所缺失的ATM基因的所有编码外显子，我们对10例A-T患者的ATM突变情况进行了分析。在9例患者中检测到了突变。我们描述了在第17号内含子5'剪接位点的剪接连接处发现的首个ATM突变，该突变导致外显子跳跃。然而，大多数突变是小的缺失或插入，导致翻译产物过早终止。基于DNA的未知突变检测方法的发展以及ATM突变模式的进一步特征化将有助于识别A-T携带者并评估他们的癌症风险。
