Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province

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.

Madadi Nastaran; KHAZAEI KOOHPAR ZEINAB; RANJI NAJMEH

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

Journal Paper

Paper Information

Journal: Razi Journal of Medical Sciences Year:2019 | Volume:26 | Issue:1 Page(s): 32-39

Download Full-Text

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

Persian Verion

View:

535

Download:

Cites:

Information Journal Paper

Title

Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province

Author(s)

Madadi Nastaran | KHAZAEI KOOHPAR ZEINAB | RANJI NAJMEH | Issue Writer Certificate

Keywords

Phenylalanine hydroxylaseQ1

PhenylketonuriaQ2

MutationQ2

Exon 6Q1

Abstract

Background: Phenylketonuria (PKU) is a metabolic disorder caused by Mutations in the Phenylalanine hydroxylase (PAH) gene. After thalassemia, PKU is considered as the most common autosomal recessive disease in the Iranian population. Therefore, it is necessary to identify the disease-causing Mutations in this population. According to the PAH database, one of the exons with the greatest number of mutant alleles is Exon 6 and the surrounding introns. Accordingly, this study was designed to identify Exon 6 Mutations of PAH gene among PKU patients in Guilan province and compare them with studies conducted in other regions of Iran. Methods: In this descriptive cross-sectional study, 25 PKU patients and non-relatives (1 to 21 years old) from different regions of Guilan province were identified during a one-year period. After genomic DNA extraction, Mutation detection was performed by polymerase chain reaction-sequencing method. Results: The Mutations and polymorphisms identified in this study included R176X (4%) and Q232Q (46%), respectively. The patient had mHPA phenotype and her parents were 3th degree relatives. Conclusion: Considering that the R176X Mutation was only found in 4% of chromosomes in this study, achieving a complete spectrum of PAH gene Mutations in PKU patients in Guilan province requires the analysis of 12 other exons. In addition, considering the difference of PAH Mutation spectrum in different regions of Iran, comprehensive studies in different regions of Iran can identify specific Mutations in each region and these studies can be used to advance the future preventive and therapeutic goals.

Cites

No record.

References

Cite

APA: Copy

Madadi, Nastaran, KHAZAEI KOOHPAR, ZEINAB, & RANJI, NAJMEH. (2019). Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), 26(1 ), 32-39. SID. https://sid.ir/paper/367456/en

Vancouver: Copy

Madadi Nastaran, KHAZAEI KOOHPAR ZEINAB, RANJI NAJMEH. Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2019;26(1 ):32-39. Available from: https://sid.ir/paper/367456/en

IEEE: Copy

Nastaran Madadi, ZEINAB KHAZAEI KOOHPAR, and NAJMEH RANJI, “Molecular analysis of exon 6 mutations of phenylalanine hydroxylase gene in phenylketonuria patients from Guilan province,” RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), vol. 26, no. 1 , pp. 32–39, 2019, [Online]. Available: https://sid.ir/paper/367456/en

Related Journal Papers