STUDY OF FRDA GENE IN SUSPECT FRIEDRICH ATAXIA PATIENTS

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

NASEROLESLAMI MARYAM; PARIVAR KAZEM; SANJARIAN SARA; ARIYANI OMID; HOUSHMAND MASSOUD

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY Year:2012 | Volume:21 | Issue:4 (66) Page(s): 275-280

Download Full-Text

Persian Verion

View:

858

Download:

Cites:

Information Journal Paper

Title

STUDY OF FRDA GENE IN SUSPECT FRIEDRICH ATAXIA PATIENTS

Author(s)

Keywords

FRIEDREICH ATAXIAQ2

FXN GENEQ2

PCRQ2

Abstract

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.

Cites

No record.

References

No record.

Cite

APA: Copy

NASEROLESLAMI, MARYAM, PARIVAR, KAZEM, SANJARIAN, SARA, ARIYANI, OMID, & HOUSHMAND, MASSOUD. (2012). STUDY OF FRDA GENE IN SUSPECT FRIEDRICH ATAXIA PATIENTS. MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY, 21(4 (66)), 275-280. SID. https://sid.ir/paper/98888/en

Vancouver: Copy

NASEROLESLAMI MARYAM, PARIVAR KAZEM, SANJARIAN SARA, ARIYANI OMID, HOUSHMAND MASSOUD. STUDY OF FRDA GENE IN SUSPECT FRIEDRICH ATAXIA PATIENTS. MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY[Internet]. 2012;21(4 (66)):275-280. Available from: https://sid.ir/paper/98888/en

IEEE: Copy

MARYAM NASEROLESLAMI, KAZEM PARIVAR, SARA SANJARIAN, OMID ARIYANI, and MASSOUD HOUSHMAND, “STUDY OF FRDA GENE IN SUSPECT FRIEDRICH ATAXIA PATIENTS,” MEDICAL SCIENCES JOURNAL OF ISLAMIC AZAD UNIVERSITY, vol. 21, no. 4 (66), pp. 275–280, 2012, [Online]. Available: https://sid.ir/paper/98888/en

Related Journal Papers