Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia

摘要

Single-strand conformation polymorphism (SSCP) analysis followed by direct sequencing of exons containing ATP-binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was performed on 80 Russian DNA samples. Two new alterations — S1196X (exon 19) and W1282R (exon 20) — and two novel polymorphisms — 1525-61 (intron 9) and 1716+12 T-C (intron 10) — were identified. Mutation S1196X changes a TCA codon to TGA and destroys anEcoRI site. Alteration W1282R results from a T-to-C change at position 3976. It was found in one Russian patient and creates anAciI site; however, it is unclear whether this is a disease-causing mutation or a polymorphism. Polymorphism 1525-61 results from an A-to-G change. Alteration 1716+12 T-C was found in a Moldovian patient and creates a newMaeII site. It is not known whether this alteration affects the splicing of the mRNA. The previously described A4002G polymorphism was encountered in approximately 9 of Russian CF chromosomes. In addition, we have found the previously described 3732delA mutation in 7 CF chromosomes, making it the second (after ΔF508) most frequent mutation in the Russian po