Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia
Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately t...
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Qom University of Medical Sciences
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doaj-2011805824ba4d0daa4a4811e49d11152021-08-31T10:01:59ZfasQom University of Medical SciencesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum1735-77992008-13752012-12-016417Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxiamaryam Naseroleslami0kazem Parivar1sara Sanjarian2elham Khalili3Omid Aryani4Mohsen Akhavan Sepahi5M Houshmand6 Islamic Azad University, Science & Research Branch Islamic Azad University, Science & Research Branch Islamic Azad University, Science & Research Branch Special Medical Center Special Medical Center Qom University of Medical Sciecnes National Institute for Genetic Engineering & Biotechnology Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two-thirds of these patients suffer from cardiomyopathy and more than 30% have diabetes mellitus. Individuals with FRDA have identifiable mutations in the FXN gene . The most common type of mutation which is observed on both alleles in more than 98% of patients is an expansion of a GAA triplet-repeat in intron of FXN gene. Approximately 2% of individuals with FRDA are compound heterozygotes, who have a GAA expansion in the disease-causing range in one FXN allele and an inactivating FXN mutation in another allele . Aim of the present study was to investigate exon 1 in FRDA gene in patients with clinical symptoms of Friedreich’s Ataxia that have not GAA triplet-repeat expansion in intron 1 of FXN gene. Methods: In this study , exon 1 in 5 patients suspected of FRDA analyzed using PCR and sequencing. Results : An A to G transition at nucleotide number 815284, in exon 1 was observed in all patients. Conclusion: The results of this study showed that disease-causing homozygous mutations could be because of consanguinity marriage in Iran. Therefore, sequencing of all exons of the gene is necessary.http://journal.muq.ac.ir/article-1-123-en.htmlfriedreich ataxiaexonsgenes |
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fas |
format |
Article |
sources |
DOAJ |
author |
maryam Naseroleslami kazem Parivar sara Sanjarian elham Khalili Omid Aryani Mohsen Akhavan Sepahi M Houshmand |
spellingShingle |
maryam Naseroleslami kazem Parivar sara Sanjarian elham Khalili Omid Aryani Mohsen Akhavan Sepahi M Houshmand Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum friedreich ataxia exons genes |
author_facet |
maryam Naseroleslami kazem Parivar sara Sanjarian elham Khalili Omid Aryani Mohsen Akhavan Sepahi M Houshmand |
author_sort |
maryam Naseroleslami |
title |
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia |
title_short |
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia |
title_full |
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia |
title_fullStr |
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia |
title_full_unstemmed |
Investigation of Exon 1 in FXN Gene in Patients with Clinical Symptomatic of Friedreich Ataxia |
title_sort |
investigation of exon 1 in fxn gene in patients with clinical symptomatic of friedreich ataxia |
publisher |
Qom University of Medical Sciences |
series |
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum |
issn |
1735-7799 2008-1375 |
publishDate |
2012-12-01 |
description |
Background and Objectives: Friedreich’s ataxia (FRDA) is an autosomal recessive disorder that is typically associated with dysarthria, muscle weakness, spasticity in the lower limbs, scoliosis, bladder dysfunction, absent lower limb reflexes, and loss of position and vibration sense. Approximately two-thirds of these patients suffer from cardiomyopathy and more than 30% have diabetes mellitus. Individuals with FRDA have identifiable mutations in the FXN gene . The most common type of mutation which is observed on both alleles in more than 98% of patients is an expansion of a GAA triplet-repeat in intron of FXN gene. Approximately 2% of individuals with FRDA are compound heterozygotes, who have a GAA expansion in the disease-causing range in one FXN allele and an inactivating FXN mutation in another allele . Aim of the present study was to investigate exon 1 in FRDA gene in patients with clinical symptoms of Friedreich’s Ataxia that have not GAA triplet-repeat expansion in intron 1 of FXN gene. Methods: In this study , exon 1 in 5 patients suspected of FRDA analyzed using PCR and sequencing. Results : An A to G transition at nucleotide number 815284, in exon 1 was observed in all patients. Conclusion: The results of this study showed that disease-causing homozygous mutations could be because of consanguinity marriage in Iran. Therefore, sequencing of all exons of the gene is necessary. |
topic |
friedreich ataxia exons genes |
url |
http://journal.muq.ac.ir/article-1-123-en.html |
work_keys_str_mv |
AT maryamnaseroleslami investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT kazemparivar investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT sarasanjarian investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT elhamkhalili investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT omidaryani investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT mohsenakhavansepahi investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia AT mhoushmand investigationofexon1infxngeneinpatientswithclinicalsymptomaticoffriedreichataxia |
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