Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

Human Mutation

Volumn 9, Issue 2, 1997, Pages 122-130

  Nissen, Henrik ^a   Petersen, Niels Erik ^a   Mustajoki, Sami ^b   Hansen, Torben Stiig ^a   Mustajoki, Pertti ^b   Kauppinen, Raili ^b   Hørder, Mogens ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

acute intermittent; diagnosis; DNA mutational analysis; genetic screening; porphyria

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC VALUE; EXON; GENE MUTATION; GENETIC SCREENING; HUMAN; PORPHYRIA; PRIORITY JOURNAL;

EID: 0031000605     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<122::AID-HUMU4>3.0.CO;2-B     Document Type: Article

References (8)

1. Astrin KH, Desnick RJ (1994) Molecular basis of acute intermittent porphyrria: Mutations and polymorphisms in the human hydroxymethylbilane synthetase gene. Hum Mutat 4:243-252.
2. Bourgeois F, Gu XF, Deybach JC, Velde MPT, Rooij F, Nordmann Y, Grandchamp B (1992) Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity. Clin Chem 38:93-95.
3. Chen C, Astrin KH, Lee G, Anderson KE, Desnick RJ (1994) Acute intermittent porphyrria: Identification and expression of exonic mutations in the hydroxymethylbilane syntase gene. J Clin Invest 94:1927-1937.
4. Chretien S, Dubart A, Beaupain D, Raich N, Grandchamp B, Rosa J, Goossens M, Romeo P (1988) Alternative transcription and splicing of the human porphobilinogen deaminase gene results in either tissue specific or in housekeeping expression. Proc Natl Acad Sci USA 85:6-10.
5. Daimon M, Yamatani K, Igarashi M, Fukase M, Ogawa A, Tominaga M, Sasaki H (1993) Acute intermittent porphyrria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. Hum Genet 92:549-553.
6. Ford RE, Ou C, Elleffson RE (1980) Assay for erythrocyte uroporphobilinogen I synthase activity, with porphobilinogen as substrate. Clin Chem 26:1182-1185.
7. Grandchamp B, Picat C, de Rooij F, Beaumont C, Wilson P, Deybach JC, Nordmann Y (1989a) A point mutation G - A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. Nucleic Acids Res 17:6637-6649.
8. Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Romeo PH, Goossens M, Nordmann Y (1989b) Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur J Clin Invest 19:415-418.