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  • 27 -5 (55) 2023 — Nabieva Nozima Abdurahimovna — ASSOCIATION OF THE MTRR POLYMORPHOUS GENE (A66G) WITH INCREASED RISK OF CEREBRAL PALSY DEVELOPMENT IN UZBEKISTAN

27 -5 (55) 2023 — Nabieva Nozima Abdurahimovna — ASSOCIATION OF THE MTRR POLYMORPHOUS GENE (A66G) WITH INCREASED RISK OF CEREBRAL PALSY DEVELOPMENT IN UZBEKISTAN

ASSOCIATION OF THE MTRR POLYMORPHOUS GENE (A66G) WITH INCREASED RISK OF CEREBRAL PALSY DEVELOPMENT IN UZBEKISTAN

Nabieva Nozima Abdurahimovna Bukhara State Medical Institute named after Abu Ali ibn Sina

Resume

Purpose: to study the association of the polymorphic MTRR gene (A66G) with an increased risk of developing cerebral palsy in Uzbekistan.

Material and Methods: The studies were conducted with the participation of 203 individuals, among which a general group of patients with cerebral palsy (n=100) and a healthy control group (n=103) were distinguished. Depending on the variant of cerebral palsy, patients of the general group were divided into two groups: cerebral palsy without symptomatic epilepsy (n=81) and cerebral palsy with symptomatic epilepsy (n=19).

Molecular genetic analysis was performed with DNA extraction from peripheral blood using the AmpliPrime RIBO-prep reagent kit (Russia) and the detection of the MTHFR (C677T) genetic polymorphism using test systems from Litekh, OOO NPF (Russia). The amplification process was reproduced on a GeneAmp PCR-system 2720 thermal cycler (Applied Biosystems, USA). Statistical processing of the obtained results was carried out using the software package OpenEpi – 2009 (Version 2.3).

Results: The results of our study allowed us to establish that the polymorphic MTRR gene (A66G) is associated with an increased risk of developing cerebral palsy without SE for the mutant allele G (χ2=14.2; P=0.01) and the G/G genotype (χ2=7.3; P=0.01) . Moreover, the mutant allele G (χ2=14.0; P=0.01), A/G (χ2=5.2; P=0.03), and G/G genotypes (χ2=5.7; P=0.03) increase the risk of developing cerebral palsy with SE by 4.0 ; 3.1 and 6.3 times.

Conclusions: Unfavorable allelic and genotypic variants of the polymorphic MTRR gene (A66G) can independently be associated with the development of cerebral palsy, which is important to consider when taking preventive measures to prevent the development of this pathology in Uzbekistan.

Key words: MTHFR gene polymorphism (C677T), allele, genotype, risk of development, cerebral palsy, symptomatic epilepsy.

First page

166

Last page

172

For citation: Nabieva Nozima Abdurahimovna – ASSOCIATION OF THE MTRR POLYMORPHOUS GENE (A66G) WITH INCREASED RISK OF CEREBRAL PALSY DEVELOPMENT IN UZBEKISTAN //New Day in Medicine 166-172 https://newdaymedicine.com/index.php/2023/05/24/l-61/

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