Geographic Heterogeneity of 4 Common Worldwide Cystic Fibrosis Non-DF508 Mutations in Brazil

Document Type

Article

Authors

Salmo Raskin, Vanderbilt University; Universidade Federal do Parana
John A. Phillips, Vanderbilt University
Gail Kaplan, Vivigen Inc.
Melodie McClure, Vivigen Inc.
Cindy Vnencak-Jones, Vanderbilt University
Tatiana Rozov, Universidade de São Paulo
Joselina M. Cardieri, Universidade de São Paulo
Paulo Marostica, Universidade Federal do Rio Grande do Sul
Fernando Abreu, Universidade Federal do Reio Grande do Sul
Roberto Giugliani, Universidade Federal do Reio Grande do Sul
Francisco Reis, Universidade Federal de Minas Gerais
Nelson A. Rosario, Universidade Federal do Parana
Nerberto Ludwig, Hospital Joana de Gusmao, Florianopolis, Brazil
Lilian Pereira, Universidade Fedaral do Parana
Fabio Faucz, Universidade Federal do Parana
Jauraz Gabardo, Universidade Federal do Parana
Lodercio Culpi, Universidade Federal do Prana

Abstract

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the most common mutation (DF508) in Brazilian patients of European origin is 47%. To determine the frequency of 4 other common CF mutations (G542X, G551D, R553X, and N1303K) in Brazilian patients of European origin, we used direct polymerase chain reaction (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards. The DNA came from 247 non-DF508 chromosomes from 172 Brazilian CF patients ascertained from 5 different states of Brazil. The results show that the 4 mutations account for 17% of the non-DF508 alleles and only 9% of the total number of Brazilian CF alleles. Overall, the frequency of each mutation is different from northern European and North American populations but similar to southern European populations, mainly the Italian and Spanish populations. When Brazilian patients of European origin are grouped according to state of birth, the frequencies of the mutations are significantly different between southern and southeastern states of Brazil. Therefore there are serious implications for risk assessment of DNAbased tests in heterogeneous populations such as Brazilians. Further studies are needed to identify the remaining 44% of CF mutations for the different populations and regions of Brazil.

Recommended Citation

Raskin, Salmo; Phillips, John A.; Kaplan, Gail; McClure, Melodie; Vnencak-Jones, Cindy; Rozov, Tatiana; Cardieri, Joselina M.; Marostica, Paulo; Abreu, Fernando; Giugliani, Roberto; Reis, Francisco; Rosario, Nelson A.; Ludwig, Nerberto; Pereira, Lilian; Faucz, Fabio; Gabardo, Jauraz; and Culpi, Lodercio (1999) "Geographic Heterogeneity of 4 Common Worldwide Cystic Fibrosis Non-DF508 Mutations in Brazil," Human Biology: Vol. 71: Iss. 1, Article 9.
Available at: https://digitalcommons.wayne.edu/humbiol/vol71/iss1/9