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Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article

BACKGROUND: 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. Autosomal dominant, X-linked and multifactorial patterns of in...

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Autores principales: Wajchenberg, Marcelo, Lazar, Monize, Cavaçana, Natale, Martins, Delio Eulalio, Licinio, Luciana, Puertas, Eduardo Barros, Landim, Elcio, Zatz, Mayana, Ishida, Akira
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873229/
https://www.ncbi.nlm.nih.gov/pubmed/20374654
http://dx.doi.org/10.1186/1748-7161-5-7
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author Wajchenberg, Marcelo
Lazar, Monize
Cavaçana, Natale
Martins, Delio Eulalio
Licinio, Luciana
Puertas, Eduardo Barros
Landim, Elcio
Zatz, Mayana
Ishida, Akira
author_facet Wajchenberg, Marcelo
Lazar, Monize
Cavaçana, Natale
Martins, Delio Eulalio
Licinio, Luciana
Puertas, Eduardo Barros
Landim, Elcio
Zatz, Mayana
Ishida, Akira
author_sort Wajchenberg, Marcelo
collection PubMed
description BACKGROUND: 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. Autosomal dominant, X-linked and multifactorial patterns of inheritances have been reported. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family. METHODS: Evaluation of 57 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, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.
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spelling pubmed-28732292010-05-20 Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article Wajchenberg, Marcelo Lazar, Monize Cavaçana, Natale Martins, Delio Eulalio Licinio, Luciana Puertas, Eduardo Barros Landim, Elcio Zatz, Mayana Ishida, Akira Scoliosis Research BACKGROUND: 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. Autosomal dominant, X-linked and multifactorial patterns of inheritances have been reported. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family. METHODS: Evaluation of 57 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, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study. BioMed Central 2010-04-07 /pmc/articles/PMC2873229/ /pubmed/20374654 http://dx.doi.org/10.1186/1748-7161-5-7 Text en Copyright ©2010 Wajchenberg et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Wajchenberg, Marcelo
Lazar, Monize
Cavaçana, Natale
Martins, Delio Eulalio
Licinio, Luciana
Puertas, Eduardo Barros
Landim, Elcio
Zatz, Mayana
Ishida, Akira
Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title_full Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title_fullStr Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title_full_unstemmed Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title_short Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
title_sort genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873229/
https://www.ncbi.nlm.nih.gov/pubmed/20374654
http://dx.doi.org/10.1186/1748-7161-5-7
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