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. 2015;19(3):183-7.
doi: 10.7508/ibj.2015.03.009. Epub 2015 May 30.

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

Morteza Bagheri  1   2 , Isa Abdi Rad  1   2 , Nima Hosseini Jazani  1 , Rasoul Zarrin  1 , Ahad Ghazavi  3
Affiliations

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

Morteza Bagheri et al. Iran Biomed J. 2015.

Abstract

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.

Keywords: Phenylalanine hydroxylase; Population genetics; Variable numbers of tandem-repeat.

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Figures

Fig. 1
Fig. 1
Identification of VNTR alleles in 11 samples by PCR test in Iranian Azeri Turkish general population. PCR yields fragments of 325, 475, 505, 565, 595, and 625 bp containing 3, 8, 9, 11, 12, and 13 repeat copies, respectively. Lane 1, 8/13; Lane 2, 3/11; Lane 3, 3/12; Lane 4, 9/13; Lane 5, 8/8; Lane 6, 3/3; Lane 7, 3/8; Lane 8, 8/8; Lane 9, 3/11; Lane 10, 9/13; Lane 11, 8/11; M: 50 bp DNA ladder.
See this image and copyright information in PMC

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