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Intern Med Today 2023, 30(1): 0-0 |
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Asgari Moghadam M, Vakili Dadkhah M A, Zare S Z, Hossein Marzeh P, Khazaei Koohpar Z. The Association between Variable Number Tandem Repeat Alleles
and Phenylalanine Hydroxylase Gene Mutations in Phenylketonuria
Patients in the North of Iran. Intern Med Today 2023; 30 (1)
URL: http://imtj.gmu.ac.ir/article-1-4064-en.html
URL: http://imtj.gmu.ac.ir/article-1-4064-en.html
Mahdieh Asgari Moghadam1 
, Mohammad Ali Vakili Dadkhah1 , Seyedeh Zahra Zare1 , Parisa Hossein Marzeh1 , Zeinab Khazaei Koohpar *2
, Mohammad Ali Vakili Dadkhah1 , Seyedeh Zahra Zare1 , Parisa Hossein Marzeh1 , Zeinab Khazaei Koohpar *2
1- Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran
2- Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran ,dz.khazaei@gmail.com
2- Department of Cellular and Molecular Biology, Faculty of Biological Sciences, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran ,
Abstract: (30 Views)
Aims Phenylketonuria (PKU) is one of the essential causes of intellectual disability in infants, and its consequences can only be prevented through timely diagnosis and treatment. Furthermore, mutations in the phenylalanine hydroxylase (PAH) gene are the primary cause of PKU. On the other hand, the variable number tandem repeat (VNTR) is a polymorphic marker within the PAH gene, used to determine carriers and for prenatal diagnosis in PKU families. The present study was conducted to investigate the association between VNTR alleles and PAH gene mutations in patients with PKU in Northern Iran (Golestan and Guilan provinces).
Materials & Methods This descriptive cross-sectional study included 51 unrelated PKU patients from various areas of Golestan and Guilan provinces in northern Iran. After extracting genomic DNA from leukocytes, the VNTR-containing fragments of the PAH gene were assessed using the polymerase chain reaction (PCR) sequencing method. Then, the association between the VNTR marker and the PAH gene mutations in patients with PKU in northern Iran was investigated.
Findings Our analysis showed the association between VNTR alleles and some PAH gene mutations, such as IVS10-11G>A, IVS11+1G>C, p.P416Hfs*36, and p.R408W, in the studied patients. A strong association was mainly observed between the most common mutation of PKU patients in Golestan province, i.e., IVS10-11G>A mutation and VNTR7 allele, which was reported as IVS10-11G>A-VNTR7 (19.2%), IVS11+1G>C-VNTR8 (7.7%), p.P416Hfs*36-VNTR9 (7.7%), and p. R408W-VNTR3 (3.8%).
Conclusion Based on the results of this study, it can be concluded that the most common mutation of PKU in Golestan province (IVS10-11G>A) is exclusively associated with the VNTR7 allele, and the VNTR7-IVS10-11G>A test should be considered for routine carrier screening and prenatal diagnostic settings.
Materials & Methods This descriptive cross-sectional study included 51 unrelated PKU patients from various areas of Golestan and Guilan provinces in northern Iran. After extracting genomic DNA from leukocytes, the VNTR-containing fragments of the PAH gene were assessed using the polymerase chain reaction (PCR) sequencing method. Then, the association between the VNTR marker and the PAH gene mutations in patients with PKU in northern Iran was investigated.
Findings Our analysis showed the association between VNTR alleles and some PAH gene mutations, such as IVS10-11G>A, IVS11+1G>C, p.P416Hfs*36, and p.R408W, in the studied patients. A strong association was mainly observed between the most common mutation of PKU patients in Golestan province, i.e., IVS10-11G>A mutation and VNTR7 allele, which was reported as IVS10-11G>A-VNTR7 (19.2%), IVS11+1G>C-VNTR8 (7.7%), p.P416Hfs*36-VNTR9 (7.7%), and p. R408W-VNTR3 (3.8%).
Conclusion Based on the results of this study, it can be concluded that the most common mutation of PKU in Golestan province (IVS10-11G>A) is exclusively associated with the VNTR7 allele, and the VNTR7-IVS10-11G>A test should be considered for routine carrier screening and prenatal diagnostic settings.
Type of Study: Original |
Subject:
Diseases
Received: 2024/12/6 | Accepted: 2025/08/30 | Published: 2023/12/7
Received: 2024/12/6 | Accepted: 2025/08/30 | Published: 2023/12/7
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