Nørgaard-Pedersen B, Høgdall E V, Arends J, Vuust J
Sektor for bioteknologie, Statens Seruminstitut, København.
Ugeskr Laeger. 1994 Jun 20;156(25):3757-60.
A total of 1081 blood screening cards taken from newborn babies, were anonymously selected for cystic fibrosis (CF) screening by quantitation of immunoreactive trypsin (IRT, Delfia) and by delta F508 mutational analyses using polymerase chain reaction followed by a time resolved fluorescence hybridization assay (Delfia). The IRT values showed a log normal distribution and were significantly higher in girls than boys and in 28 carriers compared with 1052 normals. In 12 newborns, corresponding to 1.02%, an IRT concentration greater than 70 micrograms/l was found. One of these was a delta F508 homozygote with an IRT concentration of 380 micrograms/l. delta F508 mutational analyses showed 1052 normals, 28 heterozygotes, and one homozygote, i.e., a carrier frequency of this mutation for delta F508 of 1:39. In future newborn CF-screening programmes we therefore recommend Delfia IRT followed by Delfia delta F508 analyses for IRT values greater than 70 micrograms/l.
从新生儿中随机抽取1081份血样筛查卡，采用免疫反应性胰蛋白酶（IRT，时间分辨荧光免疫分析法）定量及聚合酶链反应后接时间分辨荧光杂交分析法（时间分辨荧光免疫分析法）进行ΔF508突变分析，对囊性纤维化（CF）进行匿名筛查。IRT值呈对数正态分布，女孩及28名携带者的IRT值显著高于1052名正常人。在12名新生儿（占1.02%）中，发现IRT浓度大于70μg/L。其中1名是ΔF508纯合子，IRT浓度为380μg/L。ΔF508突变分析显示有1052名正常人、28名杂合子和1名纯合子，即该ΔF508突变的携带频率为1:39。因此，在未来的新生儿CF筛查项目中，我们建议对IRT值大于70μg/L的情况采用时间分辨荧光免疫分析法IRT检测，随后进行时间分辨荧光免疫分析法ΔF508分析。
