Escoliose idiopática do adolescente: estudo familiar para identificação de regiões cromossômicas ligadas à sua etiologia
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 rel...
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| Formato: | tesis doctoral |
| Estado: | Versión publicada |
| Fecha de publicación: | 2010 |
| País: | Brasil |
| Recursos: | Universidade Federal de São Paulo (UNIFESP) |
| Repositorio: | Repositório Institucional da UNIFESP |
| Idioma: | portugués |
| OAI Identifier: | oai:repositorio.unifesp.br:11600/9474 |
| Acesso em linha: | http://repositorio.unifesp.br/handle/11600/9474 |
| Access Level: | acceso abierto |
| Palavra-chave: | Adolescent Genetics Idiopathic scoliosis Scoliosis Genética Adolescente Escoliose |
| 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. |
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