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The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

✍ Scribed by D. S. Konecki; M. Schlotter; F. K. Trefz; U. Lichter-Konecki

Publisher: Springer
Year: 1991
Tongue: English
Weight: 689 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00197153

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✦ Synopsis

DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (El) with phenylketonuria (PKU). The Leu48--, Ser amino acid substitution was associated with the mutant haplotype 3 allele and the Glu221-+Gly amino acid substitution with the mutant haplotype 4 allele of this family. Allele-specific oligonucleotide 4(ASO) dotblot analysis subsequently detected the Leu s---~Ser mutation in the haplotype 4 PKU alleles of nine (18.8%) of the 48 unrelated Caucasian PKU families investigated. This mutation results in mild PKU in the homozygous state. The Glu221-+Gly mutation has only been detected within patient E1 and his father.

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