Volume 7, Issue 2 (3-2003)                   ibj 2003, 7(2): 89-90 | Back to browse issues page

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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
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
Type of Study: Full Length |

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