Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian 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.

Farhadi Shaheni N.; BAGHBANI ARANI F.; Mahdavi Ourtakand M.

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

Journal Paper

Paper Information

Journal: Feyz Medical Sciences Journal Year:2023 | Volume:27 | Issue:2 Page(s): 197-201

Download Full-Text

Persian Verion

View:

124

Download:

Cites:

Information Journal Paper

Title

Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients

Author(s)

Farhadi Shaheni N. | BAGHBANI ARANI F. | Mahdavi Ourtakand M. | Issue Writer Certificate

Keywords

Neurofibromatosis Type 1

Common mutation

DNA sequencing

Mutability exons

Abstract

Background: Neurofibromatosis Type 1 (NF1) is an autosomal dominant disease caused by mutations in a tumor suppressor protein called neurofibromin. The NF1 gene consists of 60 exons and due to the large size of the NF1 gene, variation in mutations and the absence of mutation hotspots is a complex problem in genetic counselling. Considering that determining the frequency of mutations in a population contributes to effective genetic counseling and prevention of more diseases. So, this study aimed to identify the underlying genetic defect in 10 Iranian patients with Neurofibromatosis Type 1. Materials and Methods: After collecting blood from patients and genomic DNA extraction, 9 high Mutability exons were analyzed by PCR and sequencing methods. Finally, sequenced exons and reference exons were compared using the bioinformatic tools, and mutations were identified. Results: Among 10 evaluated patients six different mutations were detected. These mutations included two deletions (c. 1458-1459 delAA, c. 1541-1542 delAG in 13 & 14 exons, respectively), and four substitution mutations. The c. 5172 G>A, c. 3871-2 A>G, and c. 3867 C>T mutations were reported for the first time in this study. Conclusions: The results of this study implied that there are various mutations in this disease and the most reliable method for NF1 mutation analysis is DNA sequencing.

Cites

No record.

References

Cite

APA: Copy

Farhadi Shaheni, N., BAGHBANI ARANI, F., & Mahdavi Ourtakand, M.. (2023). Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients. FEYZ, 27(2 ), 197-201. SID. https://sid.ir/paper/1083092/en

Vancouver: Copy

Farhadi Shaheni N., BAGHBANI ARANI F., Mahdavi Ourtakand M.. Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients. FEYZ[Internet]. 2023;27(2 ):197-201. Available from: https://sid.ir/paper/1083092/en

IEEE: Copy

N. Farhadi Shaheni, F. BAGHBANI ARANI, and M. Mahdavi Ourtakand, “Analysis of mutable exons of neurofibromatosis Type 1 (NF1) gene in Iranian patients,” FEYZ, vol. 27, no. 2 , pp. 197–201, 2023, [Online]. Available: https://sid.ir/paper/1083092/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops