Literature DB >> 2268974

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

B Dworniczak1, C Aulehla-Scholz, J Horst.   

Abstract

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).

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Year:  1990        PMID： 2268974     DOI： 10.1111/j.1399-0004.1990.tb03580.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.

Authors:  B Dockhorn-Dworniczak; B Dworniczak; L Brömmelkamp; J Bülles; J Horst; W W Böcker
Journal:  Nucleic Acids Res       Date:  1991-05-11       Impact factor: 16.971

2.  Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Authors:  L Kalaydjieva; B Dworniczak; C Aulehla-Scholz; M Devoto; G Romeo; M Sturhmann; V Kucinskas; V Yurgelyavicius; J Horst
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Authors:  M Zygulska; A Eigel; B Dworniczak; A Sutkowska; J J Pietrzyk; J Horst
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 4.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

5.  Comparison of genotype and intellectual phenotype in untreated PKU patients.

Authors:  S J Ramus; S M Forrest; D B Pitt; J A Saleeba; R G Cotton
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

6.  Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Authors:  L Kozák; V Kuhrová; M Blazková; V Romano; L Fajkusová; D Dvoráková; A Pijácková
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

7.  DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.

Authors:  U Lichter-Konecki; M Schlotter; D S Konecki
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

8.  Selection for translation efficiency on synonymous polymorphisms in recent human evolution.

Authors:  Yedael Y Waldman; Tamir Tuller; Alon Keinan; Eytan Ruppin
Journal:  Genome Biol Evol       Date:  2011-07-29       Impact factor: 3.416

9.  The role of p53 inactivation in human cervical cell carcinoma development.

Authors:  K Miwa; S Miyamoto; H Kato; T Imamura; M Nishida; Y Yoshikawa; Y Nagata; N Wake
Journal:  Br J Cancer       Date:  1995-02       Impact factor: 7.640
  9 in total

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