Identification of acute intermittent porphyria carriers by molecular biologic methods

Acta Physiologica Hungarica

Volumn 86, Issue 2, 1999, Pages 147-153

  Bor, Márta ^a   Balogh, Katalin ^b   Pusztai, Ágnes ^a   Tasnádi, Gyöngyi ^a   Hunyady, László ^b  

^a I Department of Medicine   (Hungary)

^b SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

Author keywords

Acute intermittent porphyria; Asymptotic carrier of acute intermittent porphyria; DNA sequence analysis; Hidroxymethylbilane synthase; Mutation; Restriction enzyme analysis

Indexed keywords

DNA; DNA FRAGMENT; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CHEMISTRY; CLINICAL TRIAL; ENZYMOLOGY; EXON; GENETICS; HETEROZYGOTE; HUMAN; NUCLEIC ACID PROBE; POLYACRYLAMIDE GEL ELECTROPHORESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANTISENSE ELEMENTS (GENETICS); DNA; DNA FRAGMENTATION; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; HETEROZYGOTE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIA, ACUTE INTERMITTENT; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0033254551     PISSN: 0231424X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Bottomley, S. S., Bonkowsky, H. L., Kreimer-Birnbaum, M.: The diagnosis of acute intermittent porphyria. Am. J. Clin. Path, 76, 133-138 (1981).
2. Astrin, K. H., Desnick, R. J.: Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene. Hum Mut., 4, 243-252 (1994).
3. Deybach, J. C., Puy, H.: Porphobilinogen deaminase structure and molecular defects. J. Bioenerg. Biomembr., 27, 197-205 (1995).
4. Kawasaki, E. S.: Sample preparation from blood, cells, and other fluids. In: PCR Protocols, eds Innis, M. A., Gelfand, D. H., Sninsky, J. J., White, T. J., Academic Press, San Diego, 1999, pp. 146-152.
5. Gu, X. F., De Rooij, F., Voortman, G., Velde, K. T., Nordmann, Y., Grandchamp, B.: High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. Am. J. Hum. Genet., 51, 660-665 (1992).
6. Delfau, M. H., Picat, C., De Rooij, F., Hamer, K., Bogard, M., Wilson, J. H. P., Deybach, J. C., Nordmann, Y., Grandchamp, B.: Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J. Clin. Invest., 86, 1511-1:516 (1990).