Prevalence and distribution of genetic diseases in Quebec: Impact of the past on the present;La prévalence et la distribution des maladies géné tiques au Québec: L'impact du passé sur le présent

Medecine/Sciences

Volumn 23, Issue 11, 2007, Pages 997-1001

  Laberge, Anne Marie ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CANADA; DIFFERENTIAL DIAGNOSIS; GENE ISOLATION; GENE MUTATION; GENETIC DISORDER; GENETIC DRIFT; HUMAN; MIGRATION; POPULATION SIZE; PREVALENCE; REVIEW;

EID: 36549016142     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/20072311997     Document Type: Review

References (27)

1. De Braekeleer M, Dao TN. Hereditary disorders in the French Canadian population of Quebec. I. In search of founders. Hum Biol 1994 ; 66 : 205-23.
2. De Braekeleer M, Dao TN. Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche. Hum Biol 1994 ; 66 : 225-49.
3. e siècle. Paris et Montréal : Presses Universitaires de France et Presses de l'Université de Montréal, 1987 : 232 p.
4. Larin R. Brève histoire du peuplement européen en Nouvelle-France. Sillery : Éditions du Septentrion, 2000 : 226 p.
5. Institut de la Statistique du Québec. Recensement de la population 1996-1991-1986. Données comparatives et faits saillants. Cahier 3. Immigration, langue et origine ethnique. Publications du Québec, 1999 : 158 p.
6. McGowan-Jordan J, Stoddard K, Podolsky L, et al. Molecular analysis of cystinosis : probable Irish origin of the most common French Canadian mutation. Eur J Hum Genet 1999 ; 7 : 671-8.
7. Brittingham A, de la Cruz GP. Ancestry : 2000. Census 2000 brief. US Census Bureau, 2004 : 10.
8. nd ed. New York : Wiley-Liss, 2004 ; 576 : XXIII.
9. Bouchard G, De Braekeleer M. Histoire d'un génome : population et génétique dans l'est du Québec. Sillery : Presses de l'Université du Québec, 1991 : 607.
10. Laberge AM, Michaud J, Richter A, et al. Population history and its impact on medical genetics in Quebec. Clin Genet 2005 ; 68 : 287-301.
11. Scriver CR. Human genetics : lessons from Quebec populations. Annu Rev Genomics Hum Genet 2001 ; 2 : 69-101.
12. Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000 ; 24 : 120-5.
13. Dupré N, Howard HC, Mathieu J, et al. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol 2003 ; 54 : 9-18.
14. De Braekeleer M, Larochelle J. Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 1990 ; 47 : 302-7.
15. Brais B, Rouleau GA, Bouchard JP, et al. Oculopharyngeal muscular dystrophy. Semin Neurol 1999 ; 19 : 59-66.
16. Carter K, Byck S, Waters P, et al. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation : the Quebec experience. Eur J Hum Genet 1998 ; 6 : 61-70.
17. Chappuis PO, Hamel N, Paradis AJ, et al. Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer. Clin Genet 2001 ; 59 : 418-23.
18. Tonin PN, Perret C, Lambert JA, et al. Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. Int J Cancer 2001 ; 95 : 189-93.
19. Merante F, Petrova-Benedict R, MacKay N, et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint- Jean region of Quebec. Am J Hum Genet 1993 ; 53 : 481-7.
20. Kaplan F, Kokotsis G, DeBraekeleer M, et al. Beta-thalassemia genes in French-Canadians : haplotype and mutation analysis of Portneuf chromosomes. Am J Hum Genet 1990 ; 46 : 126-32.
21. Vohl MC, Moorjani S, Roy M, et al. Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec. Clin Genet 1997 ; 52 : 1-6.
22. Zlotogora J. Knowing the ethnic origin of the patient is important in making a diagnosis. Am J Med Genet 1998 ; 78 : 393-4.
23. Bouchard JP, Richter A, Melancon SB, et al. Autosomal recessive spastic ataxia (Charlevoix-Saguenay). In : Klockgether T, ed. Handbook of ataxia disorders. New York : Marcel Dekker, 2000 : 311-24.
24. Poudrier J, St-Louis M, Lettre F, et al. 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. Prenat Diagn 1996 ; 16 : 59-64.
25. Palomaki GE, FitzSimmons SC, Haddow JE. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 2004 ; 6 : 405-14.
26. El Euch-Fayache G, Lalani I, Amouri R, et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 2003 ; 60 : 982-8.
27. Criscuolo C, Banfi S, Orio M, et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 2004 ; 62 : 100-2.