title: 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.
abstract: Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose of this paper is to document an application of a two-tier survey design in different states of Brazil, from which regional differences of the incidence of CF and frequency of CF-causing mutation(s) carriers can be for the first time estimated. We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped. Our results suggest that the CF-incidence in different parts of Brazil may differ by almost 20-fold. For the five different states as a whole, nearly 48% of the CF-alleles carry the p.F508del mutation, which places the estimates of disease incidence and carrier frequencies for the Brazilian European descents as 1 in 7576 live births and 2.3%, respectively. The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.
authors.affiliation: Pontificia Universidade Catolica do Parana, Brazil. genetika@genetika.com.br
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Lilian
authors.initials: L
authors.lastname: Pereira-Ferrari
authors.forename: Francisco Caldeira
authors.initials: FC
authors.lastname: Reis
authors.forename: Fernando
authors.initials: F
authors.lastname: Abreu
authors.forename: Paulo
authors.initials: P
authors.lastname: Marostica
authors.forename: Tatiana
authors.initials: T
authors.lastname: Rozov
authors.forename: Joselina
authors.initials: J
authors.lastname: Cardieri
authors.forename: Norberto
authors.initials: N
authors.lastname: Ludwig
authors.forename: Lairton
authors.initials: L
authors.lastname: Valentin
authors.forename: Nelson Augusto
authors.initials: NA
authors.lastname: Rosario-Filho
authors.forename: Eurico
authors.initials: E
authors.lastname: Camargo Neto
authors.forename: Eduardo
authors.initials: E
authors.lastname: Lewis
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Edna Maria Albuquerque
authors.initials: EM
authors.lastname: Diniz
authors.forename: Lodercio
authors.initials: L
authors.lastname: Culpi
authors.forename: John Atlas
authors.initials: JA
authors.lastname: Phillip
authors.forename: Ranajit
authors.initials: R
authors.lastname: Chakraborty
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007199:Indians, South American / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D018571:Sentinel Surveillance; D044465:White People / Q000235:genetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator