Telatar M, Wang S, Castellvi-Bel S, Tai L Q, Sheikhavandi S, Regueiro J R, Porras O, Gatti R A
Department of Pathology, University of California at Los Angeles School of Medicine 90095, USA.
Mol Genet Metab. 1998 May;64(1):36-43. doi: 10.1006/mgme.1998.2693.
Ataxia telangiectasia (A-T) is an autosomal recessive disorder with a broad range of clinical manifestations and a frequency of 1:40,000-100,000 live births. Epidemiological studies have suggested that A-T heterozygotes are at an elevated risk of breast cancer. ATM mutations occur worldwide over the entire ATM gene, making it difficult to identify heterozygotes in large populations. However, some founder-effect mutations are specific for certain populations. Here, we present four mutations in Costa Rican A-T patients that accounted for 86-93% of 41 patients studied in two batches. We have developed assays for rapid detection of these four mutations which can be used diagnostically. They will also enable the Costa Rican population to be used as a model for analyzing the role of ATM heterozygosity in cancer development and other disorders.
共济失调毛细血管扩张症（A-T）是一种常染色体隐性疾病，临床表现多样，在活产婴儿中的发病率为1:40,000至100,000。流行病学研究表明，A-T杂合子患乳腺癌的风险较高。ATM突变在全球范围内的整个ATM基因中都有发生，这使得在大量人群中识别杂合子变得困难。然而，一些奠基者效应突变在特定人群中具有特异性。在此，我们报告了哥斯达黎加A-T患者中的四个突变，这四个突变在分两批研究的41名患者中占86%-93%。我们已开发出用于快速检测这四个突变的检测方法，可用于诊断。这些检测方法还将使哥斯达黎加人群能够作为一个模型，用于分析ATM杂合性在癌症发展和其他疾病中的作用。
