Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add filters








Year range
1.
Genet. mol. biol ; 27(3): 321-325, Sept. 2004. ilus, tab
Article in English | LILACS | ID: lil-366173

ABSTRACT

This study reports the frequencies of the CCR5D32 mutation of the beta-chemokine 5 gene and discusses the possible effects of past and recent gene flow in three quilombo remnants (Brazilians communities with anthropological African ancestry whose ancestors were escaped slaves): Rio das Rãs, Mocambo, and São Gonçalo in the northeastern region of Brazil. The CCR5D32 allele frequency of the Mocambo population was significantly higher (5.6 percent) than that found in the Rio das Rãs (1 percent) and São Gonçalo (0.9 percent) populations. These differences may reflect different proportions of parental populations in the founders individuals, a founder-effect and/or different histories of inter-ethnic contact. The frequency of the CCR5D32 allele in the Mocambo sample is similar to that found in those urban Brazilian populations which have a large amount of European genetic input, indicating a European contribution to the gene pool of this population and suggesting that, perhaps since its foundation, Mocambo has had a high level of admixture or experienced a founder-effect.


Subject(s)
Humans , Ethnicity , Polymorphism, Genetic , Receptors, CCR5 , Africa , Brazil , Gene Frequency , Genetic Markers , Genetics, Population , Mutation
2.
J. pediatr. (Rio J.) ; 71(6): 344-8, nov.-dez. 1995. ilus
Article in Portuguese | LILACS | ID: lil-176003

ABSTRACT

Relatamos a história clínica de dois irmäos com a síndrome de Cockayne clássica. As principais manifestaçöes consistiam de nanismo caquético, retardo mental, calcificaçöes intracranianas, microcefalia, enoftalmia, aparência senil, hipomotilidade articular e fotossensibilidade cutânea. Em uma dessas crianças, que faleceu aos 10 anos de idade de broncopneumonia, os estudos de necrópsia revelaram uma variedade de anomalias, principalmente encefálicas, que incluíam um cisto aracnóideo na base do cerebelo, defeito aparentemente näo descrito previamente em pacientes com esta síndrome.


Subject(s)
Cockayne Syndrome , Genetic Heterogeneity , Child
SELECTION OF CITATIONS
SEARCH DETAIL