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Mutation and polymorphism of the phenylalanine hydroxylase gene detected by PCR-SSCP analysis



Mutation and polymorphism of the phenylalanine hydroxylase gene detected by PCR-SSCP analysis



Journal of China Medical University 21(3): 169-171



DNA samples from 9 patients with phenylketonuria (PKU) and 22 normal subjects were amplified by polymerase chain reaction (PCR) with a set of primers flanking the exon 7 of the human phenylalanine hydroxylase gene. The amplified products were further investigated by PCR-SSCP (single-strand conformation polymorphism) analysis. A single-strand band pattern representing the mutation of the gene was detected in 3 cases with PKU. Another pattern derived from DNA polymorphism was detected both in PKU cases and in normal subjects. The result was valuable in prenatal diagnosis of PKU.

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Accession: 009066742

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