Biopolym. Cell. 2004; 20(1-2):107-114.
http://dx.doi.org/10.7124/bc.000699
Association between genotype and clinical manifestation of the most spread monogenic hereditary disorders
1Livshits L. A., 2Bychkova A. M., 1Nechyporenko M. V., 1Ekshyyan O. Yu., 1Gryschenko N. V., 1Malyarchuk S. G., 1Pampukha V. N., 1Kravchenko S. A., 3Afanaseva N. A., 3Pichkur N. A., 2Skiban G. V.
  1. Institute of Molecular Biology and Genetics, NAS of Ukraine
    150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
  2. Ukrainian Scientific Center of Radiation Medicine MAS of Ukraine
    53, Melnikova Str., Kyiv, Ukraine, 04050
  3. Crimean Medical Genetics Center
    77, Titova Str., Simferopol, Ukraine, 95000

Abstract

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.
Full text: (PDF, in Ukrainian)

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