Rasio D, Negrini M, Croce C M
Jefferson Cancer Institute, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.
Cancer Res. 1995 Dec 15;55(24):6053-7.
The ATM gene, involved in the genetic disorder ataxia-telangiectasia (AT), has been identified recently. This gene is suspected to predispose to malignancy and is located in a chromosomal region that we have recently found deleted in 50 to 60% of breast and lung carcinomas. Because of its location and its function, the ATM gene is a strong candidate tumor suppressor or modifier gene of chromosome region 11q23. In this study, we define its genomic structure. The aim was to establish the basis for the development of mutation scanning methods based on DNA instead of RNA. We found that the gene spans a region of approximately 70-80 kb and is composed of 37 exons, ranging in size from 64 to 324 bp. Nucleotide sequences of all exon/intron boundaries were determined. With this information, it will be possible to develop simple genetic tests for the identification of homozygotes and heterozygotes, as well as determine whether the gene is involved in the pathogenesis of breast and other carcinomas.
与遗传性疾病共济失调毛细血管扩张症（AT）相关的ATM基因最近已被鉴定出来。该基因被怀疑易引发恶性肿瘤，且位于我们最近发现的在50%至60%的乳腺癌和肺癌中发生缺失的一个染色体区域。鉴于其位置和功能，ATM基因是染色体区域11q23的一个强有力的候选肿瘤抑制或修饰基因。在本研究中，我们确定了它的基因组结构。目的是为基于DNA而非RNA的突变扫描方法的开发奠定基础。我们发现该基因跨度约70 - 80 kb，由37个外显子组成，大小从64至324 bp不等。确定了所有外显子/内含子边界的核苷酸序列。有了这些信息，就有可能开发出简单的基因检测方法来鉴定纯合子和杂合子，以及确定该基因是否参与乳腺癌和其他癌症的发病机制。
