|
Russian Journal | ISSN 0042-8809 |
| Voprosy Meditsinskoi Khimii |
Biomedical Chemistry |
Issue:
Volume 43, issue 5
Title:
MOLECULAR GENETIC HETEROOGENEITY OF INHERITED DISEASES
Authors:
V. S . Gaitskhoki
Address:
Research Instutute for Experimental Medicine of the Russian Academy of
Medical Sciences, St. Petersburg
Abstract:
The review describes the results of the investigations into molecular heterogeneity
of monogenic inherited diseases which could be revealed at the levels of
the structure of mutant genes, biochemical phenotype of disease and its
clinical manifestations. The multilocus origin of some diseases, the patterns
of gene mutations, their types, the bloaks of the gene expression and the
variability of the biochemical phenotypes of diseasese are characterized.The
data concerning trans–acting mutations causing the specific secondary alterations
of the biochemical phenotype and corresponding clinical manifestations
are summarized. Some mechanisms of the suppression of pathological phenotype
are analyzed.
Key words: Inherited discases, molecular heferoqerity, mutaticets,
biochemical phemotype
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