Biopolym. Cell. 2004; 20(1-2):107-114.
Association between genotype and clinical manifestation of the most spread monogenic hereditary disorders
- Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
- Ukrainian Scientific Center of Radiation Medicine MAS of Ukraine
53, Melnikova Str., Kyiv, Ukraine, 04050
- Crimean Medical Genetics Center
77, Titova Str., Simferopol, Ukraine, 95000
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.
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