Biopolymers and cell. Volume 20. 1-2. 107-114.


L. A. Livshits, A. M. Bychkova, M. V. Nechyporenko, O. Yu. Ekshyyan, N. V. Gryschenko, S. G. Malyarchuk, V. N. Pampukha, S. A. Kravchenko, N. A. Afanaseva, N. A. Pichkur, G. V. Skiban


Association between genotype and clinical manifestation of the most spread monogenic hereditary disorders




Genotype-phenotype association study was performed in Ukraine with CF, PKU, SMA and fragile X syndrome patients. The data of correlation between some mutations in CFTR, PAH, SMN, FMR-1 genes and special phenotype manifestations were obtained. A possible role of other modulating genes involved in CF, PKU, SMA and fragile X syndrome pathogenesis is discussed. The data obtained suggest that HFE-1 gene may be a modificating factor of phenotype manifestations in CF patients.