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 ...

background: classification of molar gestation into complete hydatidiform mole (chm) and partial hydatidiform mole (phm) is done according to clinical, ultrasonographic, histologic and genetic criteria. however, making a distinction between chm and phm using histologic criteria alone may be difficult and several studies have shown that misclassifications are frequent, even for experienced pathol...

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 ...

The standard slipped-strand mispairing (SSM) model for the formation of variable number tandem repeats (VNTRs) proposes that a few tandem repeats, produced by chance mutations, provide the "raw material" for VNTR expansion. However, this model is unlikely to explain the formation of VNTRs with long motifs (e.g., minisatellites), because the likelihood of a tandem repeat forming by chance decrea...