Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

Human Molecular Genetics

Volumn 5, Issue 7, 1996, Pages 981-984

  Warnich, Louise ^a   Kotze, Maritha J ^a   Groenewald, Ilse M ^a   Groenewald, Johannes Z ^a   Van Brakel, Maléne G ^a   Van Heerden, Carel J ^a   De Villiers, J Nico P ^a   Van De Ven, Wim J M ^b   Schoenmakers, Eric F P M ^b   Taketani, Shigeru ^c   Retief, Andries E ^a  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c KANSAI MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE; RESTRICTION ENDONUCLEASE;

ARTICLE; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; EXON; GENE MUTATION; HAPLOTYPE; HUMAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; PROTEIN ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTH AFRICA;

DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FLAVOPROTEINS; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MALE; MITOCHONDRIAL PROTEINS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIAS, HEPATIC; PROTEIN FOLDING; PROTOPORPHYRINOGEN OXIDASE; SOUTH AFRICA;

EID: 8944263312     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.981     Document Type: Article

References (13)

1. Deybach, J.C., da Silva, V., Grandchamp, B. and Nordmann, Y. (1985) The mitochondrial location of protoporphyrinogen oxidase. Eur. J. Biochem., 149, 431-435.
2. Dean, G. (1972) The porphyrias. A story of inheritance and environment, 2nd edn. J.B. Lippincott, Philadelphia.
3. Nishimura, K., Taketani, S. and Inokuchi, H. (1995) Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. J. Biol. Chem., 270, 8076-8080.
4. Taketani, S., Inazawa, J., Abe, T., Furukawa, T., Kohno, H., Tokunaga, R., Nishimura, K. and Inokuchi, H. (1995) The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1. Genomics, 29, 698-703.
5. Deybach, J.C., Puy, H., Robréau, A.M., Lamoril, J., da Silva, V., Grandchamp, B. and Nordmann, Y. (1996) Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Hum. Mol. Genet., 5, 407-410.
6. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-879.
7. Keen, J., Lester, D., Inglehearn, C., Curtis, A. and Bhattacharya, S. (1991) Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels. Trends Genet., 7, 5.
8. Taketani, S., Yoshinaga, T., Furukawa, T., Kohno, H., Tokunaga, R., Nishimura, K. and Inokuchi H. (1995) Induction of terminal enzymes for heme biosynthesis during differentiation of mouse erythroleukemia cells. Eur. J. Biochem., 230, 760-765.
9. Eisenberg, D., Weiss, R.M. and Terwilliger, T.C. (1984) The hydrophobic moment detects periodicity in protein hydrophobicity. Proc. Natl Acad. Sci. USA, 81, 140-144.
10. Cooper, D.N. and Krawczak, M. (1990) The mutational spectrum of single base-pair substitutions causing genetic disease: patterns and predictions. Hum. Genet., 85, 55-74.
11. Eales, L., Day, R.S. and Blekkenhorst, G.H. (1980) The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int. J. Biochem., 12, 837-853.
12. Warnich, L., Meissner, P.N., Hift, R.J., Louw, J.H., van Heerden, C.J. and Retief, A.E. (1996) Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32. Hum. Genet. in press.
13. Kotze, M.J., Theart, L., Callis, M., Peeters, A.V. Thiart, R. and Langenhoven, E. (1995) Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations. PCR Methods Appl., 4, 352-356.