Iranian
Biomedical Journal
Volume 7, Issue 2 (3-2003)
IBJ 2003, 7(2): 89-90 |
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Kamkar M, Saadat M, Saadat I, Haghighi G. Report of VNTR with 13 Repeats Linked to Phenylalanine Hydroxylase Locus in Unaffected Members of Two PKU Families. IBJ 2003; 7 (2) :89-90
URL: http://ibj.pasteur.ac.ir/article-1-544-en.html
URL: http://ibj.pasteur.ac.ir/article-1-544-en.html
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)
Type of Study: Full Length/Original Article |
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