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Study of FRDA gene in suspect Friedrich ataxia patients
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Maryam Naseroleslami1   , Kazem Parivar2 , Sara Sanjarian3 , Omid Ariyani4 , Massoud Houshmand5 |
1- MSc Student of Cell and Molecular Biology, Science and Research Campus, Islamic Azad University, Tehran, Iran , naseroleslami@gmail.com
2- Professor, PhD of Animal Biology, Cell and Developmental Biology, Department of Animal Biology, Science and Research Campus, Islamic Azad University, Tehran, Iran
3- MSc Student of Cell and Molecular Biology, Science and Research Campus, Islamic Azad University, Tehran, Iran
4- Researcher, Genetic Laboratory of Special Medical Center, Tehran, Iran
5- Assistant Professor, PhD of Medical Genetics, Supervisor of Laboratory of Special Medical Center, Faculty Member of National Institute of Genetic Engineering and Biotechnology, Tehran, Iran |
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Abstract: (17844 Views) |
Background: Friedrich ataxia (FA) is an autosomal recessive disorder. Cause of about 2-4% of disease is a GAA triplet repeat expansion in the one allele and carries a point mutation as the other allele. This study was performed to investigate exons of FXN gene to find point mutations for the first time in Iran.
Materials and methods: In this descriptive study, 50 patients suspected to FA who referred to Special Medical Center were investigated. Genomic DNA was investigated by different PCR methods, including PCR for intron, Long PCR and PCR for exons of FXN gene. Then, products were sequenced and finally sequences were analyzed by related software.
Results: C to G nucleotide in intron 2 nt:825954, and T to C in intron 3 nt:832729 of FRDA gene were observed by sequencing method. Nucleotide G insertion was detected in exon 5a nt: 822225.
Conclusion: Our study showed that diagnosis of FA is not simple because of clinical overlapping with other ataxia, some mutations in intron maybe affect on the disease which need more examination, and because of consanguinity marriage in Iran, some patients with homozygote mutation may show FA phenotype. |
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| Keywords: Friedreich ataxia, FXN gene, PCR |
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Full-Text [PDF 318 kb]
(3558 Downloads)
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Semi-pilot: Survey/Cross Sectional/Descriptive |
Subject:
Molecular Biology
Received: 2012/02/15 | Published: 2012/02/15
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