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.
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.
Raskin
Salmo
S
Pontificia Universidade Catolica do Parana, Brazil. genetika@genetika.com.br
Pereira-Ferrari
Lilian
L
Reis
Francisco Caldeira
FC
Abreu
Fernando
F
Marostica
Paulo
P
Rozov
Tatiana
T
Cardieri
Joselina
J
Ludwig
Norberto
N
Valentin
Lairton
L
Rosario-Filho
Nelson Augusto
NA
Camargo Neto
Eurico
E
Lewis
Eduardo
E
Giugliani
Roberto
R
Diniz
Edna Maria Albuquerque
EM
Culpi
Lodercio
L
Phillip
John Atlas
JA
Chakraborty
Ranajit
R
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator