Solovĭov O O, Livshyts' L A
Tsitol Genet. 2009 Jul-Aug;43(4):20-4.
The assays for analysis of the most frequent mutations of PAH gene in Ukraine (R158Q, R408W, Y414C, P281L, R252W, R261Q) for RKU patients and healthy people using denaturing gradient gel-electrophoresis (DGGE) were developed. The study of spectrum of mutations in exons 5,7,12 PAH gene using DGGE technique and further sequencing of unidentified mutant variants was held.
已开发出利用变性梯度凝胶电泳（DGGE）技术对乌克兰RKU患者和健康人群中PAH基因最常见突变（R158Q、R408W、Y414C、P281L、R252W、R261Q）进行分析的检测方法。开展了利用DGGE技术研究PAH基因第5、7、12外显子突变谱以及对未识别突变变体进行进一步测序的工作。
