Literature DB >> 2900803

DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.

J S Lee1, M Anvret, J Lindsten, L Lannfelt, P Gellerfors, L Wetterberg, Y Floderus, S Thunell.   

Abstract

Two unrelated families with acute intermittent porphyria (AIP), an autosomal dominant disease related to a defect in porphobilinogen deaminase (PBG-D, EC 4.1.3.8.), were studied with regard to three restriction fragment length polymorphisms (RFLPs) (MspI, PstI, BstNI) within the PBG-D gene. The results indicate that linkage analysis of RFLPs within the gene can be used as a complement to PBG-D analysis for the diagnosis of gene carriers in families with AIP.

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Year:  1988        PMID： 2900803     DOI： 10.1007/bf00282182

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


  15 in total

1.  Excretion of porphobilinogen and 5-aminolaevulinic acid in acute porphyria.

Authors:  B ACKNER; J E COOPER; C H GRAY; M KELLY; D C NICHOLSON
Journal:  Lancet       Date:  1961-06-10       Impact factor: 79.321

2.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

3.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

4.  Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.

Authors:  R J Desnick; L T Ostasiewicz; P A Tishler; P Mustajoki
Journal:  J Clin Invest       Date:  1985-08       Impact factor: 14.808

5.  A PstI polymorphism for the human porphobilinogen deaminase gene (PBG).

Authors:  J S Lee; M Anvret
Journal:  Nucleic Acids Res       Date:  1987-08-11       Impact factor: 16.971

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.

Authors:  L J Strand; U A Meyer; B F Felsher; A G Redeker; H S Marver
Journal:  J Clin Invest       Date:  1972-10       Impact factor: 14.808

8.  DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.

Authors:  D H Llewellyn; G H Elder; N A Kalsheker; O W Marsh; P R Harrison; B Grandchamp; C Picat; Y Nordmann; P H Romeo; M Goossens
Journal:  Lancet       Date:  1987-09-26       Impact factor: 79.321

9.  The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11.

Authors:  M Meisler; L Wanner; R E Eddy; T B Shows
Journal:  Biochem Biophys Res Commun       Date:  1980-07-16       Impact factor: 3.575

10.  Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.

Authors:  N Raich; P H Romeo; A Dubart; D Beaupain; M Cohen-Solal; M Goossens
Journal:  Nucleic Acids Res       Date:  1986-08-11       Impact factor: 16.971
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  14 in total

1.  High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

Authors:  X F Gu; F de Rooij; G Voortman; K Te Velde; Y Nordmann; B Grandchamp
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.

Authors:  J S Lee; G Lundin; L Lannfelt; L Forsell; C Picat; B Grandchamp; M Anvret
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Authors:  M H Delfau; C Picat; F De Rooij; G Voortman; J C Deybach; Y Nordmann; B Grandchamp
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

4.  RFLP analysis of three different types of acute intermittent porphyria.

Authors:  R Kauppinen; L Peltonen; A Palotie; P Mustajoki
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

5.  A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

Authors:  B Grandchamp; C Picat; F de Rooij; C Beaumont; P Wilson; J C Deybach; Y Nordmann
Journal:  Nucleic Acids Res       Date:  1989-08-25       Impact factor: 16.971

6.  Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.

Authors:  G A Scobie; D H Llewellyn; A J Urquhart; S J Smyth; N A Kalsheker; P R Harrison; G H Elder
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

7.  Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Authors:  M H Delfau; C Picat; F W de Rooij; K Hamer; M Bogard; J H Wilson; J C Deybach; Y Nordmann; B Grandchamp
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

8.  Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Authors:  C H Chen; K H Astrin; G Lee; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1994-11       Impact factor: 14.808

Review 9.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

10.  Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.

Authors:  X F Gu; F de Rooij; G Voortman; K Te Velde; J C Deybach; Y Nordmann; B Grandchamp
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132
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