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

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dc.contributor.authorRaskin, S.
dc.contributor.authorPhillips, J. A.
dc.contributor.authorKrishnamani, MRS
dc.contributor.authorVnencakJones, C.
dc.contributor.authorParker, R. A.
dc.contributor.authorRozov, T.
dc.contributor.authorCardieri, J. M.
dc.contributor.authorMarostica, P.
dc.contributor.authorAbreu, F.
dc.contributor.authorGiugliani, R.
dc.contributor.authorReis, F.
dc.contributor.authorRosario, N. A.
dc.contributor.authorLudwig, N.
dc.contributor.authorCulpi, L.
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUNIV FED RIO GRANDE SUL
dc.contributor.institutionUniversidade Federal de Minas Gerais (UFMG)
dc.contributor.institutionUNIV FED PARANA
dc.contributor.institutionHOSP JOANA GUSMAO
dc.date.accessioned2018-06-15T17:35:08Z
dc.date.available2018-06-15T17:35:08Z
dc.date.issued1997-08-01
dc.description.abstractWe 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.en
dc.description.affiliationUNIV SAO PAULO,DEPT PEDIAT,SAO PAULO,BRAZIL
dc.description.affiliationUNIV FED RIO GRANDE SUL,DEPT PEDIAT,PORTO ALEGRE,RS,BRAZIL
dc.description.affiliationUNIV FED MINAS GERAIS,DEPT PEDIAT,BELO HORIZONT,MG,BRAZIL
dc.description.affiliationUNIV FED PARANA,DEPT GENET,BR-80410 CURITIBA,PARANA,BRAZIL
dc.description.affiliationHOSP JOANA GUSMAO,DEPT PEDIAT,FLORIANOPOLIS,SC,BRAZIL
dc.description.sourceWeb of Science
dc.format.extent499-508
dc.identifier.citationHuman Biology. Detroit: Wayne State Univ Press, v. 69, n. 4, p. 499-508, 1997.
dc.identifier.issn0018-7143
dc.identifier.urihttp://repositorio.unifesp.br/11600/43803
dc.identifier.wosWOS:A1997XG06300004
dc.language.isoeng
dc.publisherWayne State Univ Press
dc.relation.ispartofHuman Biology
dc.rightsAcesso restrito
dc.subjectcystic fibrosisen
dc.subjectRFLPen
dc.subjecthaplotypesen
dc.subjectDF508en
dc.subjectDNAen
dc.subjectBrazilen
dc.titleCystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distributionen
dc.typeArtigo
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