Please use this identifier to cite or link to this item: http://repo.knmu.edu.ua/handle/123456789/21013
Title: Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunction
Authors: Grechanina, Elena
Grechanina, Yulia
Keywords: mitochondrial dysfunction
mitochondrial dysfunction
Issue Date: 10-Sep-2017
Citation: Grechanina Y. Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunction / Y. Grechanina // Medical Education. – 2018. – Issue 12 (2), volume 52. – P. 1428–1461.
Abstract: The research concept of clarifying diagnosis MTHD based on estimates population-genetic characteristics - frequency polymorphisms mtDNA polymorphic variants of genes and enzymes folate cycle. Found variable positions with high volatility and rate of mutations that affect the occurrence of sporadic mutations. It is shown that the population of Ukraine is characterized such distribution of genotypes and allele frequencies of genes MTHFR (C677T, A1298S, G1793A); MTRR (A66G); RFC-1 (G80A), which is characterized by high proportion homozigot MTRR (A66G) mutant allele and 66G, which due to high frequency of lesions of the central nervous system.
URI: http://repo.knmu.edu.ua/handle/123456789/21013
Appears in Collections:Наукові праці. Кафедра медичної генетики

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