Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation.
Cystic fibrosis (CF) is a common autosomal recessive disorder, being the p.F508del the most frequent mutation. Also, a nearby restriction fragment length polymorphism (RFLP) named XK (KM19 and XV2C) is non-randomly associated with specific CF alleles. Our aim was to analyze the occurrence of the p.F508del mutation and XK haplotypes in Afro-Brazilians CF patients and controls, since these data is available for the other two main ethnic groups found in Brazil (Euro-Brazilians and Brazilian Amerindians), contributing for the whole comprehension of these haplotypes in the Brazilian population. A total of 103 patients and 54 controls were studied. PCR and PCR-RFLP methodologies were used to identify the presence of the p.F508del and the XK haplotype in the subjects. The combined data show that 84.2% of p.F508del mutation is associated with haplotype B and only 15.8% with haplotype A; no other haplotypes were found to be associated with this mutation. Our data suggest that the occurrence of p.F508del mutation and haplotype B in Afro-Brazilian patients occurs probably due to admixture with Euro-descendants. Therefore this mutation and haplotype could be used as a admixture marker.
Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil. denise_andreass@yahoo.com.br.|Functional Genomics Laboratory, Carlos Chagas Institute, Oswaldo Cruz Foundation, Curitiba, Paraná, Brazil. denise_andreass@yahoo.com.br.|, 61H Travessa Chile, São José dos Pinhais, Paraná, 83035-200, Brazil. denise_andreass@yahoo.com.br.
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DA
de Souza
Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.|Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, 20892, USA.
F R
FR
Faucz
Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
R B
RB
de Alexandre
Octávio Mangabeira Hospital, Reference Center of Cystic Fibrosis, Salvador, Bahia, Brazil.
M A
MA
Santana
Pediatric Division, Federal University of Bahia, Salvador, Bahia, Brazil.
E L S
EL
de Souza
Pneumology Division, Department of Pediatrics, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
F J C
FJ
Reis
Department of Biomedicine, UniBrasil, Curitiba, Paraná, Brazil.
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L
Pereira-Ferrari
Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
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VS
Sotomaior
Department of Biomedicine, UniBrasil, Curitiba, Paraná, Brazil.
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L
Culpi
Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.
J A
JA
Phillips
Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
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S
Raskin
D000483:Alleles; D001938:Brazil; D016022:Case-Control Studies; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation
D019005:Cystic Fibrosis Transmembrane Conductance Regulator
Afro-Brazilians; CFTR; Cystic fibrosis; XK haplotypes; p.F508del