Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution

Author Raskin, S. Google Scholar
Phillips, J. A. Google Scholar
Krishnamani, MRS Google Scholar
VnencakJones, C. Google Scholar
Parker, R. A. Google Scholar
Rozov, T. Google Scholar
Cardieri, J. M. Google Scholar
Marostica, P. Google Scholar
Abreu, F. Google Scholar
Giugliani, R. Google Scholar
Reis, F. Google Scholar
Rosario, N. A. Google Scholar
Ludwig, N. Google Scholar
Culpi, L. Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
UNIV FED RIO GRANDE SUL
Universidade Federal de Minas Gerais (UFMG)
UNIV FED PARANA
HOSP JOANA GUSMAO
Abstract We have used PCR amplification of DNA obtained from Guthrie cards to identify the DF508 mutation and correlate it with the allele frequencies at two polymorphic loci (XV-2C and KM-19) closely linked to the cystic fibrosis gene. The DNA came from 193 white Brazilian families affected by cystic fibrosis and living in five different states of Brazil. The distribution of the haplotypes derived from the DF508 and non-DF508 XV-2C/KM-19 genotypes indicates that 88% of the DF508 alleles are linked to haplotype B and suggests that high heterogeneity exists among the non-DF508 cystic fibrosis alleles occurring in different states. Our data can be used to compare linkage disequilibrium between Brazilians and other heterogeneous populations where the DF508 mutation frequency is low and where many different rare mutations account for the remaining recessive cystic fibrosis alleles.
Keywords cystic fibrosis
RFLP
haplotypes
DF508
DNA
Brazil
Language English
Date 1997-08-01
Published in Human Biology. Detroit: Wayne State Univ Press, v. 69, n. 4, p. 499-508, 1997.
ISSN 0018-7143 (Sherpa/Romeo, impact factor)
Publisher Wayne State Univ Press
Extent 499-508
Access rights Closed access
Type Article
Web of Science ID WOS:A1997XG06300004
URI http://repositorio.unifesp.br/11600/43803

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