ĐỘT BIẾN GEN FAT1 Ở NGƯỜI PHƠI NHIỄM DIOXIN TẠI SÔNG CÔNG, THÁI NGUYÊN: NGHIÊN CỨU BƯỚC ĐẦU

Abstract

Objective: Dioxin is one of the persistent organic pollutants (POPs) with bioaccumulative properties, and it has been demonstrated to induce mutagenesis, carcinogenesis, and neurodevelopmental disorders. Investigating genetic variants associated with dioxin exposure is crucial for assessing the long-term hereditary risks across generations. Methods: A cross-sectional descriptive study was conducted on 24 peripheral blood samples from 8 families spanning three generations (veteran – offspring – grandchild). DNA was extracted, amplified by PCR, and sequenced using the Sanger method. In silico analysis was performed using BioEdit, BLAST. Results: The study identified the heterozygous mutation c.8798A>C (p.Gln2933Pro) in the FAT1 gene in 5 individuals from two families with a history of dioxin exposure. c.8798A>C: A nucleotide substitution from Adenine (A) to Cytosine (C) at position 8798 in the FAT1 gene. p.Gln2933Pro: An amino acid change from Glutamine (Gln) to Proline (Pro) at position 2933 in the protein. This alteration affects the expression and functional activity of the FAT1 gene. Conclusion: The results suggest a potential association between dioxin exposure and FAT1 gene mutation. Dioxin exposure may play a role in the pathogenesis of intellectual disability.