Richkind K E, Boder E, Teplitz R L
JAMA. 1982 Sep 17;248(11):1346-7.
Ataxia-telangiectasia (AT) is a genetic disorder of unknown pathogenesis, with primary effects on the immune and nervous systems. The presence of a fetal-like thymus and elevated alpha-fetoprotein (alpha FP) levels in patients with AT suggests that suppressed mesodermal development may be a factor in the development of this disease. We investigated this hypothesis by using electrophoretic and quantitative analyses to test for the presence of other fetal proteins in mesodermal tissues. With the exceptions of alpha FP and carcinoembryonic antigen, all other proteins assessed in these patients were present at levels or in isozymic patterns characteristic of a normal, nonfetal state.
共济失调毛细血管扩张症(AT)是一种发病机制不明的遗传性疾病,主要影响免疫和神经系统。AT患者存在类似胎儿的胸腺以及甲胎蛋白(αFP)水平升高,这表明中胚层发育受抑制可能是该疾病发生的一个因素。我们通过电泳和定量分析来检测中胚层组织中是否存在其他胎儿蛋白,以此来研究这一假说。除αFP和癌胚抗原外,这些患者中检测的所有其他蛋白质的水平或同工酶模式均为正常非胎儿状态所特有的。