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Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders
Provedor de dados: Genetics and Molecular Biology
Autores: Santos,Silvana; Kok,Fernando; Weller,Mathias; Paiva,Francisco Rennan Lopes de; Otto,Paulo A.
A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Inbreeding levels; Genetic drift; Geographic isolation.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000200003