CHARACTERIZATION OF THE ATAXIA-TELANGIECTASIA GENE PRODUCT

共济失调-毛细血管扩张症（AT）是一种常染色体隐性遗传疾病， 以眼皮肤毛细血管扩张为特征的疾病， 进行性神经运动功能障碍，细胞和体液免疫 缺乏，对电离辐射过敏， 易患白血病和淋巴瘤。AT基因（ATM） 编码一种350 kD的蛋白质，作为丝氨酸/苏氨酸激酶， 激活p53，一种参与调节 凋亡和细胞周期。针对ATM蛋白产生的抗体 正被用来研究蛋白质的其他功能域。 此外，还开发和测试了ATM DNA芯片， 以便于识别突变携带者。这将 允许测试载波状态之间的联系， 易患各种恶性肿瘤，包括乳腺癌。

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by oculocutaneous telangiectasias and progressive neuromotor dysfunction, cellular and humoral immune deficiencies, hypersensiticvity to ionizing radiation and increased predisposition to leukemias and lymphomas. The AT gene (ATM) encodes a 350 kD protein that acts as a serine/thereonine kinase by activating p53, a key molecule involved in the regulation of apoptosis and cell cycle. Antibodies generated against ATM protein are being used to study the other functional domains of the protein. In addition, an ATM DNA chip was developed and tested in order to faciliate the identification of carriers for the mutation. This will allow the testing of the link between carrier status and increased susceptibility for various malgnancies, including breast cancer.