ISSN : 2663-2187

Molecular detection of Huntington disease in patients using the PCR-based HD gene detection

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Mana Zakeri , Akram Vahidi,Seyede Mahsa Mousavikia , Mohamad Taghi Akbari
ยป doi: 10.48047/AFJBS.6.8.2024.2427-2436

Abstract

Background: Huntington's disease is a condition that stops parts of the brain working properly over time. It's passed on (inherited) from a person's parents. It gets gradually worse over time and is usually fatal after a period of up to 20 years. HD gene may affect the pathobiology of the disease. The present study was aimed to determine the Huntington's disease amongst the patients with common clinical signs of the disease using the polymerase chain reaction. Methods: Peripheral blood samples were taken from 112 patients with the clinical signs of the Huntington's disease. DNA was extracted from blood samples and the presence of HD gene was evaluated using the PCR. Results: In examined patients, 67 men and 45 women were observed and a family history of Huntington's disease was seen in 25 patients. Of the 112 patients, 56 (50%) had HD gene in the PCR and were recognized as Huntington's disease. Transmission of paternal mutant alleles has been observed in all these patients. Conclusion: HD gene detection maybe an applied method to identify the Huntington's disease among patients with the clinical signs. However, further clinical and laboratory-based investigations should perform to assess the exact role of HD gene for identification of Huntington's disease.

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