Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population

نویسندگان

  • Ahad Ghazavi
  • Morteza Bagheri
  • Nima Hosseini Jazani
  • Rasou Zarrin
چکیده مقاله:

Background: The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population. Methods: In this study, 200 alleles from general population were studied by PCR. Results: The frequencies of VNTR alleles were 45%, 46%, 2%, 3%, 1%, and 3% in studied group regarding 3, 8, 9, 11, 12, and 13 repeat copies, respectively. Statistically significant differences were not found between expected and observed frequencies of VNTR genotypes (P > 0.05). Conclusions: VNTR alleles with three and eight repeats were frequent, and the VNTR alleles with 13 repeats showed 3% frequency in the tested group. This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene.

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molecular genetic analysis of the variable number of tandem-repeat alleles at the phenylalanine hydroxylase gene in iranian azeri turkish population

background: the variable numbers of tandem-repeat (vntr) alleles at the phenylalanine hydroxylase (pah) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. this study was carried out to analyze vntr alleles at the pah gene in iranian azeri turkish population. methods: in this study, 200 alleles from general population were studied by pcr. results: the fr...

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Identifying Variable Number of Tandem Repeat Alleles in Phenylalanine Hydroxylase Gene in Patients with Phenylketonuria in Golestan Province, Iran

Background and Objective: Phenylketonuria (PKU) is a metabolic disorder that is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The multiplicity of mutations in the PAH gene of PKU leads to the cases, in which the pathogenic mutation cannot be detected. In these cases, the variable number of tandem repeat (VNTR), which is the polymorphic marker associated with the PAH gene, is ...

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Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequen...

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Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.

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عنوان ژورنال

دوره 19  شماره 3

صفحات  183- 187

تاریخ انتشار 2015-07

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