Author/Authors :
Hamid، Mohammad نويسنده Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran , , Taghi Akbari، Mohammad نويسنده Department of Medical Genetics, Tarbiat Modares University, Tehran, Iran , , Shahidi، Gholam Ali نويسنده Neurology Department, Tehran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran , , Zand، Zahra نويسنده Science and Research Branch, Islamic Azad University, Tehran, Iran ,
Abstract :
Objective: To determine the frequency of DYT1 mutation in Iranian patients affected with
primary dystonia.
Materials and Methods: In this study, we investigated 60 patients with primary dysto- nia who referred to the Tehran Medical Genetics Laboratory (TMGL) to determine the deletional mutation of 904-906 del GAG in the DYT1 gene. DNA extracted from patients’ peripheral blood was subjected to PCR-sequencing for exon 5 of the DYT1 gene. The col- lection of samples was based on random sampling.
Results: The deletional mutation of 904-906 del GAG in the DYT1 gene (15099 to 15101 based on reference sequence: NG_008049.1) was identified in 11 patients (18.33%). The average age of affected patients with this mutation was 13.64 ± 7.4 years.
Conclusion: It can be concluded that the DYT1 deletional mutation of 904-906 del GAG has a high frequency in Iranian patients in comparison with other non-Jewish populations. Therefore, this particular mutation may be the main representative of pathogenic DYT1 gene for a large proportion of Iranian patients with primary dystonia.
