Biopolymers and cell. 1994. Volume 10. № 3-4. 63 - 67

N. M. Gusak, N. G. Gorovenko, T. I. Buzhievskaya

IDENTIFICATION OF THE NONSENSE MUTATION W1282X IN TWO CYSTIC FIBROSIS FAMILIES FROM UKRAINE

Summary

    It was previously estimated that the most common CF mutation in patient from Ukraine is AF508 (55 % of CF mutation). Other four mutation (R553X, G551D, R334W and 1677delTA) were estimated to account for 2,6 % of CF mutations. We report one more mutation — nonsense mutation W1282X, wich has not been found in CF patients from Ukraine before. We have screened 27 non AF508 chromosomes for this mutation. We found that two patients were compound heterozygote, both having AF508/W1282X genotype and moderately affected. One patient was of Ashkenazi-Ukrainian origin, another one was of Russian-Ukrainian origin. The mutation W1282X must be taken into account when performing molecular diagnosis and carrier detection for cystic fibrosis in Ukraine.