Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients
Fan, G.X.; Qing, L.X.; Jun, Y.; Mei, Z.
Southeast Asian Journal of Tropical Medicine and Public Health 30(Suppl 2): 63-65
1999
ISSN/ISBN: 0125-1562 PMID: 11400788 Document Number: 7166
Phenylketonuria (PKU) is one of the most common inborn errors of metabolic disorders. Although PKU induced mental retardation can be prevented after neonatal screening by following treatment with low phenylalanine diet, some parents are seeking prenatal diagnosis. We screened for mutations in exon 3 and 7 of the PAH gene using the DGGE and restriction enzyme method, in combination with STR linkage analysis. Prenatal diagnosis was carried out in 8 PKU families. With this strategy, we are able to make prenatal diagnosis in about 65-70% PKU families. All diagnosis was confirmed in the newborn.
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