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

Vidigal, Paula Vieira Teixeira; Reis, Francisco José Caldeira; Boson, Wolfanga L.; Marco, Luiz Armando De; Brasileiro-Filho, Geraldo

doi:10.1590/s0100-879x2008000800001

Cited by 4 publications

(4 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although we used a methodology similar to other studies, our data showed a low prevalence of glucose intolerance. This may have occurred because of the fact that 48% of the sample in the present study were under the age of 10 (61% were prepubertal), 30% did not make use of pancreatic enzymes, i.e., they did not present pancreatic insufficiency, or also because of the low prevalence of patients with the ΔF508 mutation (16, 22, 23).…”

Section: Discussionmentioning

confidence: 87%

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

et al. 2010

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 87%

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

et al. 2010

View full text Add to dashboard Cite

show abstract

“…Okay et al 2 , em estudo realizado em São Paulo, encontrou uma frequência alélica para a mutação ΔF508 de 44,5%, superior à encontrada no presente estudo. Outro estudo de frequência alélica revelou, em Minas Gerais e em São Paulo, valores menores do que no presente estudo, 21,7 e 33%, respectivamente 11,12 . Em comparação ao trabalho de Bernardino et al 9 , onde foi realizada a análise de 160 amostras de pacientes com FC para diversas mutações no gene CFTR, a frequência genotípica para a mutação ΔF508 foi, respectivamente, de 47 (29,4%), 61 (38,1%) e 52 (32,5%) para os genótipos ΔF508/ΔF508, ΔF508/-e pacientes com duas mutações não identificadas.…”

Section: Discussionunclassified

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

Bieger¹,

Marson²,

Bertuzzo³

2012

J Pediatr (Rio J)

View full text Add to dashboard Cite

Objective: To verify the presence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among patients with cystic fibrosis diagnosed by the sweat test for sodium and chlorine and followed at the Pediatric Pneumology Outpatient Clinic of Universidade Estadual de Campinas, Brazil, a referral center for the treatment of cystic fibrosis. Methods:The study analyzed 167 DNA samples from cystic fibrosis patients. Patients' genotype was determined by polymerase chain reaction, and allele and genotype frequencies of ΔF508 mutation were calculated. Results:The genotype frequencies found for -/-, ΔF508/-, and ΔF508/ΔF508 genotypes were respectively: 43.7% (73 patients), 32.9% (55 patients), and 23.4% (39 patients). Of the 334 alleles analyzed, we observed a frequency of 201 (60.18%) alleles for the absence of ΔF508 mutation and of 133 (39.82%) for the presence of ΔF508 mutation. Hardy-Weinberg equilibrium was calculated, obtaining a chi-square value = 16.34 (p ≤ 0.001). The study population was out of equilibrium.The expected values for -/-, ΔF508/-, and ΔF508/ΔF508 genotypes were respectively: 32.22% (60.48 patients), 47.93% (80.04 patients), and 15.86% (26.48 patients). Conclusions:In the analyzed population, ΔF508 mutation was less prevalent than the allele without this mutation. The frequency observed in this study was similar to that from other areas in Brazil and in the world, mainly due to the predominantly Caucasian origin of the population included in the study.J Pediatr (Rio J). 2012;88(6):531-4: Mucoviscidosis, ΔF508, genotype. ResumoObjetivo: Verificar a presença da mutação ΔF508 no gene cystic fibrosis transmembrane conductance regulator na população de pacientes com fibrose cística, diagnosticados pelo teste de sódio e cloro no suor, em acompanhamento no Ambulatório de Pneumologia Pediátrica da Universidade Estadual de Campinas, centro de referência no tratamento da fibrose cística. Métodos:Foram analisadas 167 amostras de DNA de pacientes com fibrose cística. O genótipo dos pacientes foi determinado pela técnica de reação da polimerase e realizado cálculo para a frequência dos alelos e genótipos da mutação ΔF508. Resultados:A frequência genotípica encontrada foi, respectivamente, para os genótipos -/-, ΔF508/-e ΔF508/ΔF508: 43,7% (73 pacientes), 32,9% (55 pacientes) e 23,4% (39 pacientes). Do total de 334 alelos analisados, foi observada a frequência de 201 (60,18%) alelos para a ausência da mutação ΔF508 e de 133 (39,82%) para a presença da mutação ΔF508. O cálculo do equilíbrio de Hardy-Weinberg foi realizado, e obtivemos o valor de qui-quadrado = 16,34 (p ≤ 0,001). A população analisada está fora do equilíbrio. Os valores esperados são, para os respectivos genótipos -/-, ΔF508/-e ΔF508/ΔF508: 32,22% (60,48 pacientes), 47,93% (80,04 pacientes) e 15,86% (26,48 pacientes).Conclusões: Na população analisada, a mutação ΔF508 se mostrou menos prevalente em relação ao alelo sem a mutação. A frequência encontrada neste estudo foi semelhante à de outras regiões do Brasil e do m...

show abstract

“…p.G85E, p.D1152H, and p.W1089X) screened were found, we documented a high frequency of the Gln1463Gln (c.4389 G > A) polymorphism in comparison with the healthy control group (20% vs 6%, respectively; p = 0.0029). It is notable that this variant was found in 18.3% of Brazilian patients with CF (Vidigal et al, 2008). The role of this synonymous variant in the etiology of azoospermia needs to be evaluated because evidence shows that certain synonymous SNPs involving frequent-to-rare codon substitutions may result in ribosome stalling due to a lower concentration of cognate tRNAs or an alteration of the RNA structure (Tsai et al, 2008).…”

Section: Saldañ A-alvarez Et Almentioning

confidence: 99%

Molecular Screening of theCFTRGene in Mexican Patients with Congenital Absence of the Vas Deferens

Saldaña-Álvarez

Jiménez-Morales²,

Echevarría-Sánchez³

et al. 2012

Genetic Testing and Molecular Biomarkers

View full text Add to dashboard Cite

show abstract

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

Cited by 4 publications

References 14 publications

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

Molecular Screening of theCFTRGene in Mexican Patients with Congenital Absence of the Vas Deferens

Contact Info

Product

Resources

About

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

Cited by 4 publications

References 14 publications

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

Low prevalence of glucose intolerance in racially mixed children with cystic fibrosis

Prevalence of &#916;F508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center

Molecular Screening of theCFTRGene in Mexican Patients with Congenital Absence of the Vas Deferens

Contact Info

Product

Resources

About

Prevalence of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene among cystic fibrosis patients from a Brazilian referral center