Escoliose idiopática do adolescente: estudo familiar para identificação de regiões cromossômicas ligadas à sua etiologia

Detalhes bibliográficos
Ano de defesa: 2010
Autor(a) principal: Wajchenberg, Marcelo [UNIFESP]
Orientador(a): Não Informado pela instituição
Banca de defesa: Não Informado pela instituição
Tipo de documento: Tese
Tipo de acesso: Acesso aberto
Idioma: por
Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
Programa de Pós-Graduação: Não Informado pela instituição
Departamento: Não Informado pela instituição
País: Não Informado pela instituição
Palavras-chave em Português:
Link de acesso: http://repositorio.unifesp.br/handle/11600/9474
Resumo: Introduction: The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains unknown. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. Objetive: To study the genetic aspects and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family. Methods: Evaluation of 56 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped. Results: Locating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied. Conclusion: While it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members.