Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

Journal of Cystic Fibrosis

Volumn 10, Issue 1, 2011, Pages 66-70

  Lay Son, Guillermo ^a,b,c   Puga, Alonso ^a   Astudillo, Pedro ^d   Repetto, Gabriela M ^a,c  

^a UNIVERSIDAD DEL DESARROLLO   (Chile)

^b HOSPITAL LUIS CALVO MACKENNA   (Chile)

^c HOSPITAL PADRE HURTADO   (Chile)

^d Ministerio de Salud de Chile   (Chile)

Author keywords

Alleles; CFTR; Chile; Cystic fibrosis; P.F508del

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CHILE; CYSTIC FIBROSIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC COMPLEMENTATION; GEOGRAPHY; HUMAN; MALE; POPULATION GENETICS;

ALLELES; CHILE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MUTATION; PREVALENCE;

EID: 78651431972     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2010.10.002     Document Type: Article

References (20)

1. Cystic Fibrosis Mutation Database (CFMDB). 2010. Available at http://www.genet.sickkids.on.ca/cftr/StatisticsPage.html. Accessed April 01, 2010.
2. Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations. Hum Mutat 1994, 4:167-177.
3. Welsh M.J., Ramsey B.W., Accurso F., Cutting G.R. Cystic Fibrosis. The Metabolic and Molecular Bases of Inherited Disease 2001, 5121-5188. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly (Eds.).
4. Rios J., Orellana O., Aspillaga M., Avendano I., Largo I., Riveros N. CFTR mutations in Chilean cystic fibrosis patients. Hum Genet 1994, 94:291-294.
5. Molina G., Gonzalez F.J., Cave R., et al. Clinical and molecular genetic study of cystic fibrosis in the 5th Region of Chile. Rev Med Chil 2002, 130:850-858.
6. Repetto G., Poggi H., Harris P., et al. Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis. Rev Med Chil 2001, 129:841-847.
7. Astudillo P, Mancilla P, Collaborative Chilean National Cystic Fibrosis Program. Cystic Fibrosis National Program: A Chilean Experience. Pediatric Respiratory Reviews. (Proceedings of The VII International Congress in Paediatric Pulmonology) 2006;7:s303.
8. Farrell P.M., Rosenstein B.J., White T.B., et al. Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Paediatr 2008, 153:S4-S14.
9. INE: Censo 2002. Santiago, Instituto Nacional de Estadística, 2002, 2010. Available at http://www.ine.cl/cd2002/. Accessed April 05, 2010.
10. Wallace D.C., Torroni A. American Indian prehistory as written in the mitochondrial DNA: a review. Hum Biol 1992, 64:403-416.
11. Crawford M.H. Origins of new world populations. The Origins of Native Americans: Evidence from Anthropological Genetics 1998, 1-31. Cambridge University Press, Cambridge. M.H. Crawford (Ed.).
12. Pinkney Pastrana J., Williamson G., Gómez P. Learning from Mapuche communities: intercultural education, and participation in the Ninth Region of Chile. J Crit Educ Policy Stud 2004, 2. Available at http://jceps.com/print.php?articleID=32. Accessed April 01, 2010.
13. Perez M.M., Luna M.C., Pivetta O.H., Keyeux G. CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros 2007, 6:194-208.
14. Chillon M., Casals T., Gimenez J., et al. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994, 93:447-451.
15. Casals T., Nunes V., Palacio A., et al. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet 1993, 91:66-70.
16. Derrotas de las naves de Cristóbal Colón en las Islas Canarias en el viaje de descubrimiento: Comisión de Canarias para la Conmemoración del V Centenario del Descubrimiento de América. Jornadas Colombinas. Islas Canarias, 1983. Available at http://193.145.138.27/cdm4/item_viewer.php?CISOROOT=/MDC&CISOPTR=1309&CISOBOX=1&REC=16. Accessed April 05, 2010.
17. McGinniss M.J., Chen C., Redman J.B., et al. Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. Hum Genet 2005, 118:331-338.
18. Radivojevic D., Djurisic M., Lalic T., et al. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. Genet Test 2004, 8:276-280.
19. Schrijver I., Rappahahn K., Pique L., Kharrazi M., Wong L.J. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 2008, 10:368-375.
20. Svensson AM, Chou LS, Miller CE, et al. Detection of Large Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Multiplex Ligation-Dependent Probe Amplification Assay When Sequencing Fails to Detect Two Disease-Causing Mutations. Genet Test Mol Biomarkers 2010;14:171-4.