Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome

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.

Zakeri Mana; Babaei Amir Hosein; AKBARI MOHAMAD TAGHI; ZARE KARIZI SHOHREH; Khordad Poor Deilamani Faravarh

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

Journal Paper

Paper Information

Journal: MEDICAL LABORATORY JOURNAL Year:2020 | Volume:14 | Issue:5 Page(s): 19-24

Download Full-Text

View:

107

Download:

Cites:

Information Journal Paper

Title

Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome

Author(s)

Keywords

Huntington's Disease

HDL

JPH3

PRNP

SCA17

Abstract

Background and objective: Huntington's Disease (HD) is an autosomal dominant disorder that mainly affects adults. Although mutations in the IT15 gene have been known as the main cause of the disease, patients with HD like (HDL) syndrome have mutations in genes other than the IT15 gene. In this study, we investigate the frequency of mutations in SCA17/TBP, JPH3 and PRNP genes in patients with HDL syndrome. Methods: The frequency of mutations in SCA17/TBP, JPH3 and PRNP genes was studied in 56 patients with HDL phenotype but without trinucleotide expansion in the IT15 gene. DNA was extracted from peripheral whole blood by the salting out method. PCR was performed using specific primers for each gene. PCR products were separated on polyacrylamide gel. Sequencing was performed on some samples to confirm the PCR results. Results: We found neither trinucleotide expansion in the JPH3 and SCA17, nor octapeptide insertion in the PRNP gene. Conclusion: Based on the results, Iranian patients with HDL syndrome do not have mutation in the TBP, JPH3 and PRNP genes. However, this result may be due to population differences, rarity of the mutations in the studied genes and the small number of study subjects. Therefore, studies with a larger study population that investigate other mutations, such as point mutations in the mentioned genes may help clarify the exact cause of HDL phenotype in Iranian patients.

Cites

No record.

References

No record.

Cite

APA: Copy

Zakeri, Mana, Babaei, Amir Hosein, AKBARI, MOHAMAD TAGHI, ZARE KARIZI, SHOHREH, & Khordad Poor Deilamani, Faravarh. (2020). Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome. MEDICAL LABORATORY JOURNAL, 14(5), 19-24. SID. https://sid.ir/paper/778959/en

Vancouver: Copy

Zakeri Mana, Babaei Amir Hosein, AKBARI MOHAMAD TAGHI, ZARE KARIZI SHOHREH, Khordad Poor Deilamani Faravarh. Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome. MEDICAL LABORATORY JOURNAL[Internet]. 2020;14(5):19-24. Available from: https://sid.ir/paper/778959/en

IEEE: Copy

Mana Zakeri, Amir Hosein Babaei, MOHAMAD TAGHI AKBARI, SHOHREH ZARE KARIZI, and Faravarh Khordad Poor Deilamani, “Prevalence of Trinucleotide Expansions in SCA17/TBP and JPH3 Genes and Octapeptide Insertion in PRNP Gene in Iranian Patients with Huntington-Disease like Syndrome,” MEDICAL LABORATORY JOURNAL, vol. 14, no. 5, pp. 19–24, 2020, [Online]. Available: https://sid.ir/paper/778959/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops