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

Golnaz Abedini | Zendy; Zeinab Khazaei Koohpar | Zendy

Open Access

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

Author(s) -

Golnaz Abedini,

Zeinab Khazaei Koohpar

Publication year - 2020

Publication title -

journal of advances in medical and biomedical research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.113

H-Index - 12

ISSN - 2676-6264

DOI - 10.30699/jambs.28.129.198

Subject(s) - phenylalanine hydroxylase , allele , phenylalanine , gene , tandem repeat , genetics , variable number tandem repeat , biology , amino acid , genome

10.30699/jambs.28.129.198 Background & 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 used to identify PKU carriers. The present study was conducted to investigate the allele frequency of this marker in PKU population of Golestan Province (north of Iran).

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