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2014, Número 3-4

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MEDICC Review 2014; 16 (3-4)


Antenatal testing for cystic fibrosis in Cuba, 1988−2011

Collazo MT, López RI, Clark FY, Piloto RY, González BL, Gómez MM, García HM, Reyes NL, Rodríguez CF

Idioma: Ingles.
Referencias bibliográficas: 31
Paginas: 18-21
Archivo PDF: 132.79 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. El-Seedy A, Girodon E, Norez C, Pajaud J, Pasquet MC, de Becdelièvre A, et al. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes. Hum Mutat. 2012 Nov;33(11):1557–65.

  2. Dickinson F, Batlle M, Razón R, Ramos L, Pérez M. Caracterización epidemiológica de pacientes pediátricos con fibrosis quística. Rev Cubana Pediatr [Internet]. 2005 Apr–Jun [cited 2012 Oct 6];77(2):[about 6 p.]. Available from: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312005000200001&nrm=iso. Spanish.

  3. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005 May 12;352(19):1992–2001.

  4. Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008 May;7(3):179–96.

  5. Casals T. Epidemiología y patogénesis. In: Manual de Fibrosis Quística. Barcelona: Sociedad científica de lucha contra la fibrosis quística; 2003. p. 13–9. Spanish.

  6. Cystic fibrosis. A WHO/ICF(M)A meeting. Bull World Health Organ. 1985;63(1):1–10.

  7. Collazo T. Estudio molecular de la fibrosis quística en Cuba [thesis]. [Havana]: University of Medical Sciences of Havana (CU); 2006. Spanish.

  8. Razón R, Rodríguez F, Rojo M, González J, Abreu G, Pérez T, et al. La fibrosis quística en Cuba. Rev Cubana Pediatr. 2009;81(Suppl):S85–92. Spanish.

  9. Kerem B, Rommens JM, Buchanan JA, Markiewicz DA, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–80.

  10. Cystic Fibrosis mutation database [Internet]. Toronto: Cystic Fibrosis Centre at the hospital for sick children in Toronto. c2010. CFMDB Statistics; [updated 2011 Apr 25; cited 2014 Jan 14]; [about 2 p.]. Available from: http://www.genet.sickkids.on.ca/StatisticsPage.html

  11. Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007 Mar;71(Pt 2):194–201.

  12. Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, et al. Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. J Cyst Fibros. 2011 May;10(3):217–20.

  13. Bieger AM, Marson FA, Bertuzzo CS. Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center. J Pediatr (Rio J). 2012 Nov–Dec;88(6):531–4.

  14. Teruel BM, Rodríguez JJ, McKeigue P, Mesa TC, Fuentes E, Cepero AV, et al. Interactions between genetic admixture, ethnic identity, APOE genotype and dementia prevalence in an admixed Cuban sample; a cross-sectional population survey and nested case-control study. BMC Med Genet. 2011 Mar 24;12:43.

  15. Collazo T, Bofill AM, Clark Y, Hernández Y, Gómez M, Rodríguez F, et al. Common mutations in Cuban cystic fibrosis patients. J Cyst Fibros. 2009 Jan;8(1):47–9.

  16. Boúe A, Muller F, Nezelof C, Oury JF, Duchatel F, Dumez Y, et al. Prenatal Diagnosis in 200 pregnancies with ¼ risk of cystic fibrosis. Hum Gen. 1986 Nov;74(3):288–97.

  17. Casals T, Nunes V, Lázaro C, Jiménez J, Girbau E, Volpini V, et al. Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. J Med Genet. 1991 Nov;28(11):771–6.

  18. Baranov VS, Gorbunova VM, Ivaschenko TE, Shwed NYu, Osinovskaya NS, Kascheeva TK, et al. Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R. Prenat Diagn. 1992 Jul;12(7):575–86.

  19. Miller SA. A simple salting out procedure for extracting DNA from human nucleoted cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215.

  20. Casals T, Nuñez V, Giménez J, Parra J, Estivill X. Diagnóstico prenatal de fibrosis quística en familias españolas utilizando marcadores del DNA: nuestra experiencia en 1987-1989. An Esp Pediatric. 1990 Apr;32(4):287–92. Spanish.

  21. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989 Apr 11;17(7):2503–16.

  22. Gasparini P, Borgo G, Mastella G, Bonizzato A, Dognini M, Pignatti PF. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. J Med Genet. 1992 Aug;29(8):558–62.

  23. Cutting GR, Kash LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, et al. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366–9.

  24. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May;10:214–28.

  25. Pérez MM, Luna MC, Pivetta OH, Keyeux G. CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros. 2007 May;6(3):194–208.

  26. Ustáriz CR, Morera LM, Hernández P, Estrada M, Bencomo A, García MA, et al. Origen y composición genética de la población cubana. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2011 [cited 2013 Jun 11];27(3):[about 4 p.]. Available from: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892011000300002&lng=es. Spanish.

  27. Chávez M, García RJ, Vigueras RM, Orozco L. Diagnóstico prenatal en una familia con fibrosis quística: combinación de estrategias moleculares para un diagnóstico preciso. Rev Invest Clin. 2011 Jul–Aug;63(4):433–5. Spanish.

  28. World Health Organization. The molecular genetic epidemiology of cystic fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS. Geneva: World Health Organization; 2004.

  29. Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, et al. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem. 2009 Jul;55(7):1372–9.

  30. González L, Collazo T, Clark Y, Gómez M, Reyes L. Caracterización del marcador microsatélite IVS17bTA y seis mutaciones del gen CFTR en 21 familias cubanas con fibrosis quística. Biotecnol Apl. 2013 Oct–Dec;30(4):262–6. Spanish.

  31. Tomaiuolo R, Nardiello P, Martinelli P, Sacchetti L, Salvatore F, Castaldo G. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med. 2013 Dec;51(12):2227–32.




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