Kucherenko A. Allelic polymorphism of cytokine genes (IL6, IL8, IL10 and IFNL4) in patients with monogenic disorders and mass pathology

Українська версія

Thesis for the degree of Candidate of Sciences (CSc)

State registration number

0415U004950

Applicant for

Specialization

  • 03.00.22 - Молекулярна генетика

27-10-2015

Specialized Academic Board

Д 26.237.01

Institute of Molecular Biology and Genetics of NAS of Ukraine

Essay

Object - molecular genetic factors of hereditary susceptibility to ischemic stroke and recurrent pregnancy loss, recurrent corneal erosion caused by lattice dystrophy and individual response to PEG-interferon therapy of chronic hepatitis C. Aim - to establish IL6, IL8, IL10 and IFNL4 gene polymorphic variants role as factors of genetic susceptibility to ischemic stroke, disturbance of homeostasis in the mother-foetus system, and recurrent erosion development in patients with hereditary corneal stromal dystrophy, as well as genetic factors of individual response to therapy of chronic viral hepatitis C. Methods - isolation and purification of genomic DNA, polymerase chain reaction, restriction fragment length polymorphism analysis, sequencing, bioinformatic and statistical analysis. Results and their novelty - DNA bank of individuals with varying effectiveness of chronic hepatitis C treatment was created. Allelic variants IL6 gene -174C, IL8 gene -781C and IL10 gene -592A are established as modifiers of phenotype in patients with lattice corneal dystrophy. Carrier status of the IL8 gene -781T and IL10 gene -592C alleles is a factor of susceptibility to ischemic stroke. IL10 gene -592 CC genotype may be a marker of an improvement prognosis for ischemic stroke patients within first two weeks of treatment. IL10 gene -592AA genotype and -1082A allele are factors of genetic susceptibility to miscarriage. Genotype comprising IL6 -174G and ESR1 -397C alleles in the homozygous state may be regarded as a genetic marker of successful pregnancy maintenance during early gestation. Association of IFNL4 gene ss469415590 polymorphism with treatment efficacy in patients with chronic hepatitis C has been proved. Field - molecular genetics.

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