Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco

Journal of Cystic Fibrosis

Volumn 7, Issue 5, 2008, Pages 440-443

  Ratbi, Ilham ^a,b   Génin, Emmanuelle ^c   Legendre, Marie ^a   Le Floch, Annick ^a   Costa, Catherine ^a   Cherkaoui Deqqaqi, Souad ^b   Goossens, Michel ^a   Sefiani, Abdelaziz ^b   Girodon, Emmanuelle ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b INSTITUT NATIONAL D HYGIÈNE   (Morocco)

^c INSERM   (France)

Author keywords

CF epidemiology; CF prevalence; Cystic fibrosis; Morocco

Indexed keywords

PHENYLALANINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INTRON; MALE; MOROCCO; POPULATION RESEARCH; PREVALENCE;

ADOLESCENT; ADULT; CARRIER STATE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MALE; MIDDLE AGED; MOROCCO; MUTATION; PREVALENCE;

EID: 51649100335     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2007.12.006     Document Type: Article

References (21)

1. Estivill X., Bancells C., and Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 10 (1997) 135-154
2. Bobadilla J.L., Macek Jr. M., Fine J.P., et al. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 19 (2002) 575-606
3. Messaoud T., Verlingue C., Denamur E., et al. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 4 (1996) 20-24
4. Messaoud T., Bel Hadj Fredj S., Bibi A., et al. Epidémiologie moléculaire de la mucoviscidose en Tunisie. Ann Biol Clin 63 (2005) 627-630
5. Loumi O., Baghriche M., Delpech M., et al. Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families. Hum Hered 49 (1999) 81-84
6. Claustres M., Guittard C., Bozon D., et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 16 (2000) 143-156
7. Sambrook J., Fritsch E.F., and Maniatis T. Isolation of DNA from mammalian cells. In: Sambrook J., Fritsch E.F., and Maniatis T. (Eds). Molecular cloning - a laboratory manual (1989), Cold Spring Harbor Laboratory Press, New York 917-919
8. Fanen P., Ghanem N., Vidaud M., et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions. Genomics (1992) 770-776
9. Wright S. Systems of mating. Genetics 6 (1921) 111-178
10. Attazagharti N., Hami H., Soulaymani A., et al. Consanguinité dans la région du Gharb au Maroc. Biologie et Santé 6 (2006) 1-8
11. Alonso M.J., Heine-Suñer D., Calvo M., et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet 71 (2007) 194-201
12. Kanavakis E., Efthymiadou A., Strofalis S., et al. Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin Genet 63 (2003) 400-409
13. Castaldo G., Polizzi A., Tomaiuolo R., et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. Ann Hum Genet 69 (2005) 15-24
14. Chillon M., Casals T., Mercier B., et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332 (1995) 1475-1480
15. Costes B., Girodon E., Ghanem N., et al. Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 3 (1995) 285-293
16. Dörk T., Dworniczak B., Aulehla-Scholz C., et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 100 (1997) 365-377
17. Ratbi I., Legendre M., Niel F., et al. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 22 (2007) 1285-1291
18. Wang X., Moylan B., Leopold D.A., et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 284 (2000) 1814-1819
19. Grangeia A., Niel F., Carvalho F., et al. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Hum Reprod 19 (2004) 2502-2508
20. Cuppens H., Lin W., Jaspers M., et al. Polyvariant mutant cystic fibrosis trensmembrane conductance regulator genes. J Clin Invest 101 (1998) 487-496
21. Groman J.D., Hefferon T.W., Casals T., et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 74 (2004) 176-179