Regional Distribution of Cystic Fibrosis-Linked DNA Haplotypes in Brazil: Multicenter Study

Document Type

Article

Authors

Salmo Raskin, Vanderbilt University, Universidade Federal do Parana
John A. Philips III, Vanderbilt University
M.R.S. Krishnamani, Vanderbilt University
Cindy Vnencak-Jones, Vanderbilt University
Robert A. Parker, Vanderbilt University
Elliot Dawson, Bioventures Inc.
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 Rio Grande do Sul
Roberto Giugliani, 4Universidade Federal do Rio Grande do Sul,
Francisco Reis, Universidade Federal de Minas Gerais
Nelson A. Rosario, Universidade Federal do Parana
Norberto Ludwig, Hospital Joana de Gusmao
Lodercio Culpi, Universidade Federal do Parana

Abstract

The restriction fragment length polymorphism (RFLP) haplotypes of cystic fibrosis (CF) alleles vary between populations. To determine the distribution of two RFLPs (XV-2C and KM-19) that are tightly linked to the CF locus, we analyzed a white sample from five different states of Brazil. The haplotypes of 314 CF- and 237 non-CFbearing chromosomes were uniformly distributed over the five states. The XV-2C allele and haplotype frequencies and the degree of linkage disequilibrium were determined. These were similar to values previously reported in southern European countries but different from results reported for northern and central Europe and North America. In contrast, although KM-19 allele frequencies differed between Brazilian states and European and North American countries, these frequencies were similar to values reported in black Americans. A significant proportion of Brazilian CFbearing chromosomes had less common haplotypes, suggesting a heterogeneous distribution of CF gene mutations among Brazilians. Further studies are needed to identify the mutations affecting the Brazilian CF patients with various haplotypes.

Recommended Citation

Raskin, Salmo; Philips, John A. III; Krishnamani, M.R.S.; Vnencak-Jones, Cindy; Parker, Robert A.; Dawson, Elliot; Rozov, Tatiana; Cardieri, Joselina M.; Marostica, Paulo; Abreu, Fernando; Giugliani, Roberto; Reis, Francisco; Rosario, Nelson A.; Ludwig, Norberto; and Culpi, Lodercio (1997) "Regional Distribution of Cystic Fibrosis-Linked DNA Haplotypes in Brazil: Multicenter Study," Human Biology: Vol. 69: Iss. 1, Article 6.
Available at: https://digitalcommons.wayne.edu/humbiol/vol69/iss1/6