Determination of the carrier frequency of mutations in the CFTR, PAH, GALT and GJB2 genes among 2168 individuals without clinical signs of hereditary diseases

Abstract

The study aim was to assess the frequency of heterozygous carriage of mutations in the CFTR, PAH, GALT, and GJB2 genes among healthy individuals. Materials and methods. The study involved 1000 blood donors living in Moscow and 1168 employees of the FSBI Research center for obstetrics gynecology and perinatology MOH Russia, living in Moscow and the Moscow region. All participants in the study did not have clinical manifestations of hereditary diseases. Molecular genetic studies of the samples were carried out by analyzing the most frequent mutations in the CFTR, PAH, GALT and GJB2 genes, using real-time PCR technology Results. 46 carriers of mutations in the CFTR gene, 63 carriers of mutations in the PAH gene, 12 carriers of mutations in the GALT ge ne and 74 carriers of mutations in the GJB2 gene were identified. In addition, in 3 cases, a combined carriage of mutations was found: CFTR: F508del + GALT: Q188R; CFTR: dele2.3 (21kb) + GJB2: 35delG; GJB2: 35delG + GALT: Q188R. Conclusion. The data obtained indicate a fairly high level of carriage of the studied diseases. Thus, there are prerequisites and opportunities for diagnosing the carriage of the most common autosomal recessive diseases in the population. Such studies can be an effective tool for the prevention of hereditary pathologies and reduce the incidence of diseases.