Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/43803
Title: Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution
Authors: Raskin, S.
Phillips, J. A.
Krishnamani, MRS
VnencakJones, C.
Parker, R. A.
Rozov, T.
Cardieri, J. M.
Marostica, P.
Abreu, F.
Giugliani, R.
Reis, F.
Rosario, N. A.
Ludwig, N.
Culpi, L.
Universidade Federal de São Paulo (UNIFESP)
UNIV FED RIO GRANDE SUL
Universidade Federal de Minas Gerais (UFMG)
UNIV FED PARANA
HOSP JOANA GUSMAO
Keywords: cystic fibrosis
RFLP
haplotypes
DF508
DNA
Brazil
Issue Date: 1-Aug-1997
Publisher: Wayne State Univ Press
Citation: Human Biology. Detroit: Wayne State Univ Press, v. 69, n. 4, p. 499-508, 1997.
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.
URI: http://repositorio.unifesp.br/11600/43803
ISSN: 0018-7143
Appears in Collections:Artigo

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