Frequency of the IVS12+5G→a splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean

Prenatal Diagnosis

Volumn 16, Issue 1, 1996, Pages 59-64

  Poudrier, Jacques ^a   St Louis, Maryse ^a   Lettre, Francine ^a   Gibson, Karine ^a   Prévost, Claude ^b   Larochelle, Jean ^b   Tanguay, Robert M ^a,c  

^a LAVAL UNIVERSITY   (Canada)

^b CHICOUTIMI HOSPITAL   (Canada)

^c UNIVERSITÉ LAVAL   (Canada)

Author keywords

Carrier screening; French Canadian; Mutation frequency; Splice mutation; Tyrosinaemia

Indexed keywords

FUMARYLACETOACETASE; HYDROLASE;

ARTICLE; CANADA; FEMALE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTANT; MUTATION RATE; PRIORITY JOURNAL; TYROSINEMIA;

AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; HYDROLASES; MALE; MUTATION; QUEBEC; RNA SPLICING; TYROSINE;

EID: 0030061306     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1097-0223(199601)16:1<59::aid-pd810>3.0.co;2-d     Document Type: Article

References (24)

1. De Braekeleer, M., Larochelle, J. (1990). Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean, Am. J. Hum. Genet, 47, 302-307.
2. Demers, S.I., Phaneuf, D., Tanguay, R.M. (1994). Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. Am. J. Hunt. Genet., 55, 327-333.
3. Gagné, R., Lescault, A., Grenier, A., Laberge, C., Melançon, S.B., Dallaire, L. (1982). Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid, Prenat. Diagn., 2, 185-188.
4. Grompe, M., Al-Dhalimy, M. (1993). Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia type I, Hum. Mut., 2, 85-93.
5. Grompe, M., Al-Dhalimy. M. (1995). Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation, Hum. Mut., 5, 105.
6. Grompe, M., St-Louis, M, Deniers, S.I., Al-Dhalimy, M., Leclerc, B., Tanguay, R.M. (1994). A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I, N. Engl. J. Med., 331, 353-357.
7. Kvittingen, E.A. (1986). Hereditary tyrosinemia type I: an overview, Scand. J. Clin. Lab. Invest., 46 (Suppl. 184), 27-34.
8. Kvittingen, E.A., Guibaud, P., Divry, P., Mandon, G., Rolland, M.O., Domenichini, Y., Jakobs, C., Christensen. E. (1986). Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material, Eur. J. Pediatr., 144, 597-598.
9. Labelle, Y., Phaneuf, D., Leclerc, B., Tanguay, R.M. (1993). Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity, Hum. Mol. Genet., 2, 941-946.
10. Laberge, C. (1969). Hereditary tyrosinemia in a French Canadian isolate, Am. J. Hum Genet., 21, 36-45.
11. Lindblad, B., Lindstedt, S., Steen, G. (1977). On the enzymic defects in hereditary tyrosinemia, Proc. Natl. Acad. Sci. USA, 74, 4641-4645.
12. Mitchell, G., Larochelle, J., Lambert, M., Michaud, J., Grenier, A., Ogier, H., Gauthier, M., Lacroix, J., Vanasse, M., Larbrisseau, A., Paradis, K., Weber, A., Lefevre, Y., Melançon, S., Dallaire, L. (1990). Neurologic crises in hereditary tyrosinemia, N. Engl. J. Med., 322, 432-437.
13. Mitchell, G.A., Lambert, M., Tanguay, R.M. (1995). Hypertyrosinemia. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic and Molecular Basis of Inherited Disease, 7th edn, New York: McGraw-Hill, 1077-1106.
14. Pettit, B.R., MacKenzie, F., King, G.S., Leonard, J.V. (1984). The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone, J. Inher. Metab. Dis., 7 (Suppl. 2), 135-136.
15. Phaneuf, D., Lambert, M., Laframboise, R., Mitchell, G., Lettre, F., Tanguay, R.M. (1992). Type 1 hereditary tyrosinemia evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient, J. Clin. Invest., 90, 1185-1192.
16. Rootwelt, H., Berger, R., Gray, G., Kelly, D.A., Coskun, T., Kvittingen, E.A. (1994a). Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I, Am. J. Hum. Genet., 55, 653-658.
17. Rootwelt, H., Chou, J., Gahl, W.A., Berger, R., Coskun, T., Brodtkorb, E., Kvittingen, E.A. (1994b). Two missense mutations causing tyrosinemia type I with presence and absence of immunoreactive fumarylacetoacetase, Hum. Genet., 93, 615-619.
18. Rootwelt, H., Kristensen, T., Berger, R., Hoie, K., Kvittingen, E.A. (1994c). Tyrosinemia type 1-complex splicing defects and a missense mutation in the fumarylacetoacetase gene, Hum. Genet., 94, 235-239.
19. Russo, P., O'Regan, S. (1990). Visceral pathology of hereditary tyrosinemia type I, Am. J. Hum. Genet., 47, 317-324.
20. St-Louis, M., Leclerc, B., Laine, J., Salo, M.K., Holmberg, C., Tanguay, R.M. (1994), Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I, Hum. Mol. Genet., 3, 69-72.
21. St-Louis, M., Poudrier, J., Phaneuf, D., Leclerc, B., Laframboise, R., Tanguay, R.M. (1995). Two novel mutations involved in hereditary tyrosinemia type I, Hum. Mol. Genet., 4, 319-320.
22. Tanguay, R.M., Laberge, C., Lescault, A., Valet, J.P., Duband, J.L., Quenneville, Y. (1984). Molecular basis of hereditary tyrosinemias: proof of the primary defect by Western blot, In: Ahmad, F., Black, S., Schultz, J., Scott, W.A., Whelan, W.J. (Eds). Advances in Gene Technology: Human Genetic Disorders, Cambridge: Cambridge University Press, 256-257.
23. Tanguay, R.M., Valet, J.P., Lescault, A., Duband, J.L., Laberge, C., Lettre, F., Plante, M. (1990). Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I), Am. J. Hum. Genet., 47, 308-316.
24. R 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material, Biotechniques. 10, 506-513.