An artifact band frequently associated with variable number of tandem repeat marker at phenylalanine hydroxylase gene: application in carrier detection and prenatal diagnosis of phenylketonuria.

Abstract excerpt

The variable number of tandem repeat (VNTR) marker located at the 3'-end of the phenylalanine hydroxylase (PAH) gene, PAHVNTR marker, is commonly used in carrier detection and prenatal diagnosis of the PKU disease. During the molecular diagnosis of the disease, an artifact band associated with the PAHVTNR marker was frequently observed. Analysis of genotyping data from nine trios families indicated that in...

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