A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene
Autor(a) principal: | |
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Data de Publicação: | 2007 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UCB |
Texto Completo: | http://hdl.handle.net/123456789/206 https://repositorio.ucb.br:9443/jspui/handle/123456789/7437 |
Resumo: | The well-described role of the vitamin D endocrine system in bone metabolism makes its receptor a widely investigated candidate gene in association studies looking for the genetic basis of complex bone-related phenotypes. Most association studies genotype five polymorphic sites along the gene using PCR-RFLP and allele-specific amplification methods, which may not be the better choice in large case/control or cross-sectional studies. In this case, genotyping SNPs in parallel and using automated allele-calling methods are important to decrease genotyping errors due to manual data handling and save sample in cases where the amount of DNA is limited. The aim of this study was to present a straightforward method based on multiplex PCR amplification followed by multiplex single-base extension as a simple way to genotype five vitamin D receptor gene polymorphisms in parallel, which may be implemented in medium- to large-scale case/control or cross-sectional studies. The results regarding method feasibility and optimization are presented by genotyping eight paternity trios and seven samples of Brazilian postmenopausal women who took part in an ongoing association study carried out by members of our group. |
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Lins, Túlio Cesar de LimaNogueira, Luciana RollembergLima, Ricardo MorenoGentil, PauloOliveira, Ricardo Jacó dePereira, Rinaldo Wellerson2016-10-10T03:51:29Z2016-10-10T03:51:29Z2007LINS, Túlio Cesar de Lima et al. A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene. Genetics and Molecular Research, v.6, n.2, 2007.16765680http://hdl.handle.net/123456789/206https://repositorio.ucb.br:9443/jspui/handle/123456789/7437The well-described role of the vitamin D endocrine system in bone metabolism makes its receptor a widely investigated candidate gene in association studies looking for the genetic basis of complex bone-related phenotypes. Most association studies genotype five polymorphic sites along the gene using PCR-RFLP and allele-specific amplification methods, which may not be the better choice in large case/control or cross-sectional studies. In this case, genotyping SNPs in parallel and using automated allele-calling methods are important to decrease genotyping errors due to manual data handling and save sample in cases where the amount of DNA is limited. The aim of this study was to present a straightforward method based on multiplex PCR amplification followed by multiplex single-base extension as a simple way to genotype five vitamin D receptor gene polymorphisms in parallel, which may be implemented in medium- to large-scale case/control or cross-sectional studies. The results regarding method feasibility and optimization are presented by genotyping eight paternity trios and seven samples of Brazilian postmenopausal women who took part in an ongoing association study carried out by members of our group.Made available in DSpace on 2016-10-10T03:51:29Z (GMT). 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dc.title.pt_BR.fl_str_mv |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
title |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
spellingShingle |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene Lins, Túlio Cesar de Lima VDR SNPs Multiplex genotyping Single-base extension |
title_short |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
title_full |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
title_fullStr |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
title_full_unstemmed |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
title_sort |
A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene |
author |
Lins, Túlio Cesar de Lima |
author_facet |
Lins, Túlio Cesar de Lima Nogueira, Luciana Rollemberg Lima, Ricardo Moreno Gentil, Paulo Oliveira, Ricardo Jacó de Pereira, Rinaldo Wellerson |
author_role |
author |
author2 |
Nogueira, Luciana Rollemberg Lima, Ricardo Moreno Gentil, Paulo Oliveira, Ricardo Jacó de Pereira, Rinaldo Wellerson |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Lins, Túlio Cesar de Lima Nogueira, Luciana Rollemberg Lima, Ricardo Moreno Gentil, Paulo Oliveira, Ricardo Jacó de Pereira, Rinaldo Wellerson |
dc.subject.por.fl_str_mv |
VDR SNPs Multiplex genotyping Single-base extension |
topic |
VDR SNPs Multiplex genotyping Single-base extension |
dc.description.abstract.por.fl_txt_mv |
The well-described role of the vitamin D endocrine system in bone metabolism makes its receptor a widely investigated candidate gene in association studies looking for the genetic basis of complex bone-related phenotypes. Most association studies genotype five polymorphic sites along the gene using PCR-RFLP and allele-specific amplification methods, which may not be the better choice in large case/control or cross-sectional studies. In this case, genotyping SNPs in parallel and using automated allele-calling methods are important to decrease genotyping errors due to manual data handling and save sample in cases where the amount of DNA is limited. The aim of this study was to present a straightforward method based on multiplex PCR amplification followed by multiplex single-base extension as a simple way to genotype five vitamin D receptor gene polymorphisms in parallel, which may be implemented in medium- to large-scale case/control or cross-sectional studies. The results regarding method feasibility and optimization are presented by genotyping eight paternity trios and seven samples of Brazilian postmenopausal women who took part in an ongoing association study carried out by members of our group. |
dc.description.version.pt_BR.fl_txt_mv |
Sim |
dc.description.status.pt_BR.fl_txt_mv |
Publicado |
description |
The well-described role of the vitamin D endocrine system in bone metabolism makes its receptor a widely investigated candidate gene in association studies looking for the genetic basis of complex bone-related phenotypes. Most association studies genotype five polymorphic sites along the gene using PCR-RFLP and allele-specific amplification methods, which may not be the better choice in large case/control or cross-sectional studies. In this case, genotyping SNPs in parallel and using automated allele-calling methods are important to decrease genotyping errors due to manual data handling and save sample in cases where the amount of DNA is limited. The aim of this study was to present a straightforward method based on multiplex PCR amplification followed by multiplex single-base extension as a simple way to genotype five vitamin D receptor gene polymorphisms in parallel, which may be implemented in medium- to large-scale case/control or cross-sectional studies. The results regarding method feasibility and optimization are presented by genotyping eight paternity trios and seven samples of Brazilian postmenopausal women who took part in an ongoing association study carried out by members of our group. |
publishDate |
2007 |
dc.date.issued.fl_str_mv |
2007 |
dc.date.accessioned.fl_str_mv |
2016-10-10T03:51:29Z |
dc.date.available.fl_str_mv |
2016-10-10T03:51:29Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
status_str |
publishedVersion |
format |
article |
dc.identifier.citation.fl_str_mv |
LINS, Túlio Cesar de Lima et al. A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene. Genetics and Molecular Research, v.6, n.2, 2007. |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/123456789/206 https://repositorio.ucb.br:9443/jspui/handle/123456789/7437 |
dc.identifier.issn.none.fl_str_mv |
16765680 |
identifier_str_mv |
LINS, Túlio Cesar de Lima et al. A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene. Genetics and Molecular Research, v.6, n.2, 2007. 16765680 |
url |
http://hdl.handle.net/123456789/206 https://repositorio.ucb.br:9443/jspui/handle/123456789/7437 |
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eng |
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eng |
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openAccess |
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