Jaspers N G, van der Kraan M, Linssen P C, Maçek M, Seemanová E, Kleijer W J
Medical Genetic Center, Erasmus University, Rotterdam, The Netherlands.
Prenat Diagn. 1990 Oct;10(10):667-74. doi: 10.1002/pd.1970101006.
Prenatal diagnosis was performed in two pregnancies at risk of the Nijmegen breakage syndrome. In one pregnancy, an affected fetus was diagnosed by demonstration of radioresistant DNA synthesis, using autoradiographic detection of incorporated tritiated thymidine in cultured chorionic villus cells. The diagnosis was confirmed in fetal skin fibroblasts. In the other case, the fetus appeared unaffected. Using the same procedure, unaffected fetuses were predicted from chorionic villus cells in two pregnancies at risk of ataxia telangiectasia, which is another genetic disorder showing the feature of radioresistant DNA synthesis. The present biochemical method for prenatal detection of Nijmegen breakage syndrome and ataxia telangiectasia can be used as a simplified alternative to the cytogenetic procedures reported earlier for ataxia telangiectasia.
对两例有患奈梅亨断裂综合征风险的妊娠进行了产前诊断。在一例妊娠中，通过显示抗辐射DNA合成来诊断出一个受影响的胎儿，方法是利用放射自显影检测培养的绒毛膜绒毛细胞中掺入的氚化胸腺嘧啶核苷。该诊断在胎儿皮肤成纤维细胞中得到证实。在另一例中，胎儿似乎未受影响。采用相同程序，在两例有患共济失调毛细血管扩张症风险的妊娠中，从绒毛膜绒毛细胞预测出未受影响的胎儿，共济失调毛细血管扩张症是另一种具有抗辐射DNA合成特征的遗传性疾病。目前用于产前检测奈梅亨断裂综合征和共济失调毛细血管扩张症的生化方法，可作为一种简化的替代方法，替代先前报道的用于共济失调毛细血管扩张症的细胞遗传学程序。
