Title of article :
Report of VNTR with 13 Repeats Linked to Phenylalanine Hydroxylase Locus in Unaffected Members of Two PKU Families
Author/Authors :
Kamkar, Maryam College of Science - Shiraz University , Saadat, Mostafa College of Science - Shiraz University , Saadat, Iraj College of Science - Shiraz University , Haghighi, Golbahar School of Medicine - Shiraz University of Medical Sciences
Abstract :
Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously was observed in 2 PKU families from Fars province, south of Iran. This allele showed 4% frequency in normal individuals
Keywords :
Phenylketonuria (PKU) , Phenylalanine hydroxylase (PAH) , Variable number of tandem repeats (VNTR)
Journal title :
Astroparticle Physics
