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Možný vliv genových variant v genu COMT na projevy ADHD a/nebo ASD
ŠMELCOVÁ, Miroslava
This work is focused on examining the influence of the COMT gene in two diseases: ADHD (attention deficit hyperactivity disorder) and ASD (autism spectrum disorder). Autism spectrum disorder is a behavioral syndrome characterized by impaired social interaction, impaired communication, and abnormalities in behavior, interests, and play. ADHD is a neurodevelopmental disease that causes problems mainly in the area of concentration, adjustment of activity and excessive impulsivity. Both mentioned diseases can be genetically conditioned, and therefore this work is focused on researching the frequency representation of gene variants responsible for low or high levels of dopamine in people with autism spectrum disorder and with attention deficit hyperactivity disorder compared to the control population. We performed a genetic analysis on two polymorphisms of the COMT gene, namely the more well-known rs4680 and rs4818. The analysis itself included DNA isolation, PCR amplification, control of the PCR product using gel electrophoresis, purification and sequencing of the PCR product and, in the last step, evaluation of the DNA sequence. Based on our results in the laboratory, we did not confirm the hypothesis that the above polymorphisms in the COMT gene represent a risk factor for ASD and ADHD. Our results were probably influenced by the small number of people in the monitored groups, but even this work helped in a small fragment to understand the cause of the complicated pathology of these diseases.
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