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Cell J. 2011 Spring;13(1):55-8. Epub 2011 Apr 21.

The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from Iran.

Author information

1
1. Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, 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 dystonia 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 collection 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.

KEYWORDS:

DYT1; Deletion Mutation; Dystonic Disorder; Primary Dystonia

PMID:
23671828
PMCID:
PMC3652542
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