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Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Genet Test
February 2001
Department of Pediatrics, National Otaru Hospital, Japan.
We describe a simple and technically feasible method for mutation screening of the phenylalanine hydroxylase (PAH) gene and its application to Japanese and Chinese patients with hyperphenylalaninemia. The strategy is based on the identification of a nucleotide substitution by restriction enzyme analysis, coupled with PCR and direct sequencing of exon 7 of the PAH gene. Because the detection of various mutations can proceed simultaneously using the same technique, it is quite rapid and reproducible, making it possible to perform effective molecular diagnosis and carrier screening in most laboratories.
View Article and Find Full Text PDFMolecular characterization of phenylketonuria in Japanese patients.
Hum Genet
November 1998
Department of Pediatrics, Osaka City University Medical School, Japan.
We characterized phenylalanine hydroxylase (PAH) genotypes of Japanese patients with phenylketonuria (PKU) and hyperphenylalaninemia (HPA). PKU and HPA mutations in 41 Japanese patients were identified by denaturing gradient gel electrophoresis and direct sequencing, followed by restriction fragment length polymorphism analysis to find a large deletion involving exons 5 and 6. Of 82 mutant alleles, 76 (92%) were genotyped showing 21 mutations.
View Article and Find Full Text PDFNewborn mass screening and molecular genetics of phenylketonuria in east Asia.
Southeast Asian J Trop Med Public Health
June 1996
Department of Pediatrics, Osaka City University Medical School, Japan.
Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH), and is performed with newborn mass screening. PKU causes irreversible mental retardation that can be prevented by a strict low-phenylalanine diet. More than 100 different mutations have been identified world wide and it has been revealed that PKU is a highly heterogeneous disorder.
View Article and Find Full Text PDFMutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT-PCR of illegitimate transcripts and chemical cleavage of mismatch.
Hum Mutat
February 1996
Olive Miller Protein Laboratory, Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.
Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Hum Mutat
February 1995
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme arylsulfatase A (ARSA). Unmetabolized sulfatide accumulates in the white matter of the CNS and in the peripheral nerves, leading to progressive demyelination and death.
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