Анализ полиморфизма гена метионинсинтазы-редуктазы в прогнозировании врожденной патологии челюстно-лицевой области

Abstract

The relevance of the research topicþ According to researchers, about 20,000 children with congenital pathology of the maxillofacial region are born in Russia every year. Purpose. We have studied the distribution of allele frequencies and genotype of the gene polymorphism A66G folate cycle methionine synthase reductase MTRR for predicting congenital maxillofacial area. Methods. The study involved 83 patients. The first group included 37 patients with congenital pathology of maxillofacial area, the second group (control) — 46 healthy patients. For a molecular genetic study, we used DNA samples isolated from peripheral venous blood lymphocytes. We used the standard method of phenol-chloroform extraction for DNA extraction. Results. Frequency distribution analysis of genotypes of rs1801394 showed that in both groups more common heterozygous genotype *A*G: 58.7% in control, 37.8% among patients, but the differences are not statistically significant (χ2 = 2.78; p = 0.095). A significantly high frequency of homozygous mutation in the genotype *A*A, whose frequency was 32.4% versus 10.9% in the control (χ2 = 4.61, p = 0.030) was revealed in the patients. Summary. Thus, the genetic marker of the disease is the genotype * A*A of the polymorphic locus rs1801394 of the MTRR gene. The obtained results allow using the polymorphic locus rs1801394 of the MTRR gene in predicting the congenital pathology of the maxillofacial area.