Literature DB >> 2570742

RFLP-discordance within the human phenylalanine hydroxylase locus.

O Riess1, A Michel, W Berger, P Nürnberg, J T Epplen, A Speer, C Coutelle.   

Abstract

A search for crossover events was performed in seven families with two phenylketonuria-affected children applying seven enzymes for the detection of eight restriction fragment length polymorphisms (RFLPs) by hybridisation with a human phenylalanine hydroxylase (PAH) cDNA probe. A discordance was detected within the PvuIIb-RFLP pattern of two affected sibs. This observation is most likely the result of a cross-over event in the PAH locus. Alternative explanations are discussed. Non-paternity could be excluded by DNA fingerprinting using the oligonucleotide probe (GTG)5.

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Year:  1989        PMID： 2570742     DOI： 10.1007/BF00286719

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

Review 1.  Prenatal diagnosis of the common haemoglobin disorders.

Authors:  D J Weatherall; J M Old; S L Thein; J S Wainscoat; J B Clegg
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

Review 2.  Paternity calculations from DNA multilocus profiles.

Authors:  I W Evett; D J Werrett; J S Buckleton
Journal:  J Forensic Sci Soc       Date:  1989 Jul-Aug

3.  Optimized oligonucleotide probes for DNA fingerprinting.

Authors:  R Schäfer; H Zischler; U Birsner; A Becker; J T Epplen
Journal:  Electrophoresis       Date:  1988-08       Impact factor: 3.535

4.  Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

Authors:  A G DiLella; S C Kwok; F D Ledley; J Marvit; S L Woo
Journal:  Biochemistry       Date:  1986-02-25       Impact factor: 3.162

5.  Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP.

Authors:  A Speer; H H Dahl; O Riess; G Cobet; R Hanke; R G Cotton; C Coutelle
Journal:  Clin Genet       Date:  1986-06       Impact factor: 4.438

6.  Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

Authors:  S P Daiger; A S Lidsky; R Chakraborty; R Koch; F Güttler; S L Woo
Journal:  Lancet       Date:  1986-02-01       Impact factor: 79.321

7.  Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

Authors:  B Horsthemke; U Beisiegel; A Dunning; J R Havinga; R Williamson; S Humphries
Journal:  Eur J Biochem       Date:  1987-04-01

8.  Human X chromosome markers and Duchenne muscular dystrophy.

Authors:  K E Davies; A Speer; F Herrmann; A W Spiegler; S McGlade; M H Hofker; P Briand; R Hanke; M Schwartz; V Steinbicker
Journal:  Nucleic Acids Res       Date:  1985-05-24       Impact factor: 16.971
  8 in total
  2 in total

Review 1.  Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  DNA fingerprinting with the oligonucleotide probe (CAC)5/(GTG)5: somatic stability and germline mutations.

Authors:  P Nürnberg; L Roewer; H Neitzel; K Sperling; A Pöpperl; J Hundrieser; H Pöche; C Epplen; H Zischler; J T Epplen
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132
  2 in total

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