Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

Analyzing a panel of 94 phenylketonuria (PKU) alleles for mutations within the phenylalanine hydroxylase (PAH) gene, we identified a G to A transition in exon 7 corresponding to nucleotide 957 in the cDNA sequence. This nucleotide substitution generates a new Alu I site (...GTGGCT...---...GTAGCT...)...

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Bibliographic Details
Published inClinical genetics Vol. 38; no. 4; p. 270
Main Authors Dworniczak, B, Aulehla-Scholz, C, Horst, J
Format Journal Article
LanguageEnglish
Published Denmark 01.10.1990
Subjects
Alleles
Biological Evolution
DNA Mutational Analysis
Gene Amplification - genetics
Genetic Carrier Screening
Haplotypes - genetics
Humans
Mutation - genetics
Phenylalanine Hydroxylase - genetics
Phenylketonurias - genetics
Polymerase Chain Reaction
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Summary:Analyzing a panel of 94 phenylketonuria (PKU) alleles for mutations within the phenylalanine hydroxylase (PAH) gene, we identified a G to A transition in exon 7 corresponding to nucleotide 957 in the cDNA sequence. This nucleotide substitution generates a new Alu I site (...GTGGCT...---...GTAGCT...), but does not change the encoded amino acid (GTG245---GTA245 = VAL). In our panel of patients the Alu I polymorphism is exclusively associated with haplotypes 4 (mutant or normal alleles) and 3, 16, 17, 28 (normal alleles).
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1990.tb03580.x