Ravnik-Glavac M, Glavac D, Komel R, Dean M
Inc./DynCorp, National Cancer Institute, Frederick Cancer Research and Development Center, Maryland 21702-1201.
Hum Mutat. 1993;2(4):286-92. doi: 10.1002/humu.1380020408.
Cystic fibrosis (CF) mutations have been identified in Slovenian CF patients using single-stranded conformation polymorphism (SSCP) analysis. The entire coding region and all of the splice junction sites were screened in 24 patients. By varying the electrophoretic conditions and composition of the gel, 16 different nucleotide changes have been observed in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three newly described mutations and four previously reported mutations were found. In addition two new polymorphisms have been identified. Of 35 non-delta F508 chromosomes examined, mutations were detected on 25.7%, raising the proportion of Slovenian CF alleles characterized to 67.5%. Because of the high sensitivity of the SSCP technique most of the remaining uncharacterized CF mutations probably lie in large introns, promoter sequences, or putative regulatory regions not yet analyzed.
通过单链构象多态性（SSCP）分析，在斯洛文尼亚囊性纤维化（CF）患者中鉴定出了CF突变。对24名患者的整个编码区和所有剪接连接位点进行了筛查。通过改变电泳条件和凝胶组成，在囊性纤维化跨膜传导调节因子（CFTR）基因中观察到16种不同的核苷酸变化。发现了3个新描述的突变和4个先前报道的突变。此外，还鉴定出2个新的多态性。在所检测的35条非ΔF508染色体中，25.7%检测到突变，使已鉴定的斯洛文尼亚CF等位基因比例提高到67.5%。由于SSCP技术的高灵敏度，大多数剩余未鉴定的CF突变可能位于尚未分析的大内含子、启动子序列或假定的调控区域。
