Petreska L, Plaseska D, Koceva S, Stavljenić-Rukavina A, Efremov G D
Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Macedonia.
Acta Med Croatica. 1996;50(3):125-7.
Two novel CFTR gene mutations were identified in one patient of the Macedonian and Croatian origin, respectively. The two mutations were detected by the method of denaturing gradient gel electrophoresis (a splicing mutation 1811 + 1G-->C) in intron 11, and by single strand conformation polymorphism analysis (a missence mutation Y569C) in exon 12. The mutations were characterized by direct sequencing of amplified DNA, according to Sanger. These two novel mutations were detected as associated with the delta F508 mutation.
在一名分别具有马其顿和克罗地亚血统的患者中，分别鉴定出两种新的囊性纤维化跨膜传导调节因子（CFTR）基因突变。这两种突变分别通过变性梯度凝胶电泳法（内含子11中的剪接突变1811 + 1G→C）和单链构象多态性分析（外显子12中的错义突变Y569C）检测到。根据桑格法，通过对扩增的DNA进行直接测序对这些突变进行了表征。检测到这两种新突变与ΔF508突变相关。
