p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil

Brazilian Journal of Medical and Biological Research

Volumn 41, Issue 8, 2008, Pages 643-647

  Vidigal, P V T ^a   Reis, F J C ^a   Boson, W L M ^a   De Marco, L A ^a   Brasileiro Filho, G ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; P.F508del

Indexed keywords

AMINO ACID; ASPARTIC ACID; DNA; GLUTAMIC ACID; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAZIL; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE;

EID: 52949130660     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2008000800001     Document Type: Article

References (20)

1. Duthie A, Doherty DG, Donaldson PT, Scott-Jupp R, Tanner MS, Eddleston AL, et al., The major histocompatibility complex influences the development of chronic liver disease in male children and young adults with cystic fibrosis. J Hepatol 1995; 23: 532-537.
2. Milla PJ. Cystic fibrosis: present and future. Digestion 1998; 59: 579-588.
3. Raskin S, Pereira-Ferrari L, Reis FC, Abreu F, Marostica P, Rozov T, et al. Incidence of Cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. J Cyst Fibros 2008; 7: 15-22.
4. Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, et al. Worldwide genetic analysis of the CFTR region. Am J Hum Genet 2001; 68: 103-117.
5. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002; 19: 575-606.
6. Padoa C, Goldman A, Jenkins T, Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999; 36: 41-44.
7. Raskin S, Philips JA III, Krishnamani MR, Vnencak-Jones C, Parker RA, Dawson E, et al. Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study. Hum Biol 1997; 69: 75-88.
8. Shwachman H, Kulczycki LL. Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period. AMA J Dis Child 1958; 96: 6-15.
9. Raskin S, Phillips JA III, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, et al. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am J Med Genet 1993; 46: 665-669.
10. Cabello GM, Moreira AF, Horovitz D, Correia P, Santa RA, Llerena J Jr, et al. Cystic fibrosis: low frequency of DFS08 mutation in 2 population samples from Rio de Janeiro, Brazil. Hum Biol 1999; 71: 189-196.
11. Streit C, Burlamaque-Neto AC, de Abreu e Silva F, Giugliani R, Saraiva Pereira ML. CFTR gene: molecular analysis in patients from South Brazil. Mol Genet Metab 2003; 78: 259-264.
12. Martins CS, Ribeiro F, Costa FF. Frequency of the cystic fibrosis delta F 508 mutation in a population from São Paulo State, Brazil. Braz J Med Biol Res 1993; 26: 1037-1040.
13. Cabello GM, Cabello PH, Otsuki K, Gombarovits ME, Llerena JC Jr, Fernandes O. Molecular analysis of 23 exons of the CFTR gene in Brazilian patients leads to the finding of rare cystic fibrosis mutations. Hum Biol 2005; 77: 125-135.
14. Callegari-Jacques SM, Salzano FM. Brazilian Indian/non Indian interactions and their effects. Cienc Cult 1999; 51: 166-174.
15. Alves-Silva J, da Silva Santos M, Guimaraes PE, Ferreira AC, Bandelt HJ, Pena SD, et al. The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 2000; 67: 444-461.
16. Carvalho-Silva DR, Santos FR, Rocha J, Pena SD. The phylogeography of Brazilian Y-chromosome lineages. Am J Hum Genet 2001; 68: 281-286.
17. Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SD. Color and genomic ancestry in Brazilians. Proc Natl Acad Sci U S A 2003; 100: 177-182.
18. Raskin S, Phillips JA, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, et al. Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Hum Biol 1999; 71: 111-121.
19. Raskin S, Pereira L, Reis F, Rosario NA, Ludwig N, Valentim L, et al. High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing. Genet Test 2003; 7: 213-218.
20. Goloni-Bertollo EM, Rossit AR, Junior JB, Fett-Conte AC, Raskin S. CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil. Hum Biol 2003; 75: 393-398.