A new insight into CFTR allele frequency in Brazil through next generation sequencing

Imagem de Miniatura
Arquivos
art_NUNES_A_new_insight_into_CFTR_allele_frequency_in_2017.PDF (294.34 KB)
Citações na Scopus
8
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Autores
NUNES, Luisa M.
NIEWIADONSKI, Vivian D. T.
GABURO, Nelson
Citação
PEDIATRIC PULMONOLOGY, v.52, n.10, p.1300-1305, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
BackgroundAs of 2013, fewer than 20% of patients in the Brazilian CF Registry had two CFTR mutations identified. The aim of this study was to sequence the coding region of the CFTR in Brazilian CF patients and determine the frequency of mutations in this cohort. MethodsPatients with CF and those with suspected atypical CF or CFTR-related disorders were invited to enroll. Total DNA was extracted from blood samples, quantified, and purified. Library preparation was performed using Ion Xpress Plus gDNA and Amplicon Library preparation kits (Life Technologies), as well as sequencing using the Ion Torrent platform (Life Technologies). ResultsA total of 141 patients were enrolled, and 45 mutations were identified. Among 126 CF patients, we identified mutations in 97.2% of alleles. The three most common mutations were F508del, G542X, and 3120+1G->A. Five novel pathogenic mutations were also identified. ConclusionsNext generation sequencing (NGS) allowed the identification of mutations in most CF alleles and confirmed allelic heterogeneity in our population.
Palavras-chave
cystic fibrosis, cystic fibrosis transmembrane regulator, next generation sequencing
URI
https://observatorio.fm.usp.br/handle/OPI/21913
Referências
  1. Alvarez Alfonso E., 2004, J. Pediatr. (Rio J.), V80, P371, DOI 10.1590/S0021-75572004000600007
  2. Berwouts S, 2011, HUM MUTAT, V32, P1197, DOI 10.1002/humu.21569
  3. Bobadilla JL, 2002, HUM MUTAT, V19, P575, DOI 10.1002/humu.10041
  4. Cabello GMK, 2005, HUM BIOL, V77, P125, DOI 10.1353/hub.2005.0027
  5. Castellani C, 2008, J CYST FIBROS, V7, P179, DOI 10.1016/j.jcf.2008.03.009
  6. Cutting GR, 2010, ANN NY ACAD SCI, V1214, P57, DOI 10.1111/j.1749-6632.2010.05879.x
  7. de Araujo FG, 2005, BRAZ J MED BIOL RES, V38, P11, DOI 10.1590/S0100-879X2005000100003
  8. Marson FAD, 2013, J BRAS PNEUMOL, V39, P306, DOI 10.1590/S1806-37132013000300007
  9. Elliott Aaron M, 2012, J Biomol Tech, V23, P24, DOI 10.7171/jbt.12-2301-003
  10. Faucz FR, 2007, CLIN GENET, V72, P218, DOI 10.1111/j.1399-0004.2007.00854.x
  11. Faucz FR, 2010, J HUM GENET, V55, P71, DOI 10.1038/jhg.2009.123
  12. Goldman A, 2001, CLIN GENET, V59, P37, DOI 10.1034/j.1399-0004.2001.590106.x
  13. KEREM BS, 1989, SCIENCE, V245, P1073, DOI 10.1126/science.2570460
  14. Lao O, 2003, EUR J HUM GENET, V11, P385, DOI 10.1038/sj.ejhg.5200970
  15. Costa FMM, 2007, HUM BIOL, V79, P293, DOI 10.1353/hub.2007.0040
  16. O'Sullivan BP, 2009, LANCET, V373, P1891, DOI 10.1016/S0140-6736(09)60327-5
  17. Perone C, 2010, BRAZ J MED BIOL RES, V43, P134, DOI 10.1590/S0100-879X2009007500035
  18. Raskin S, 2008, J CYST FIBROS, V7, P15, DOI 10.1016/j.jcf.2007.03.006
  19. RIORDAN JR, 1989, SCIENCE, V245, P1066
  20. Rogan MP, 2011, CHEST, V139, P1480, DOI 10.1378/chest.10-2077
  21. Sosnay PR, 2013, NAT GENET, V45, P1160, DOI 10.1038/ng.2745
  22. Streit C, 2003, MOL GENET METAB, V78, P259, DOI 10.1016/S1096-7192(03)00033-7
  23. Stuppia L, 2012, INT J MOL SCI, V13, P3245, DOI 10.3390/ijms13033245
  24. Watson Michael S, 2004, Genet Med, V6, P387, DOI 10.1097/01.GIM.0000139506.11694.7C
  25. Wetterstrand K, DNA SEQUENCING COSTS
  26. Zielenski J, 2000, RESPIRATION, V67, P117, DOI 10.1159/000029497

Coleções
Artigos e Materiais de Revistas Científicas - FM/MIP
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - LIM/46
Artigos e Materiais de Revistas Científicas - ODS/03