Amelogenin gene influence on enamel defects of cleft lip and palate patients
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Brazilian Oral Research |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-83242014000100245 |
Resumo: | The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip and palate (CLP) and enamel defects (ED). A total of 165 patients were divided into four groups: with CLP and ED (n=46), with CLP and without ED (n = 34), without CLP and with ED (n = 34), and without CLP or ED (n = 51). Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation – 2.7%), 6 (30 mutations – 81.08%) and 7 (6 mutations – 16.22%) of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 – 23.75%), compared with those without CLP (groups 3 and 4 – 8.23%). In the groups without ED, this silent mutation was also found more significantly (p = 0.032) among subjects with CLP (17.65% in group 2), compared with those without CLP (7.8% in group 4). In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate. |
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Amelogenin gene influence on enamel defects of cleft lip and palate patientsAmelogeninDental EnamelCleft LipCleft PalateThe aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip and palate (CLP) and enamel defects (ED). A total of 165 patients were divided into four groups: with CLP and ED (n=46), with CLP and without ED (n = 34), without CLP and with ED (n = 34), and without CLP or ED (n = 51). Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation – 2.7%), 6 (30 mutations – 81.08%) and 7 (6 mutations – 16.22%) of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 – 23.75%), compared with those without CLP (groups 3 and 4 – 8.23%). In the groups without ED, this silent mutation was also found more significantly (p = 0.032) among subjects with CLP (17.65% in group 2), compared with those without CLP (7.8% in group 4). In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate.Sociedade Brasileira de Pesquisa Odontológica - SBPqO2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-83242014000100245Brazilian Oral Research v.28 n.1 2014reponame:Brazilian Oral Researchinstname:Sociedade Brasileira de Pesquisa Odontológica (SBPqO)instacron:SBPQO10.1590/1807-3107BOR-2014.vol28.0035info:eu-repo/semantics/openAccessOLIVEIRA,Fernanda VeroneseDIONÍSIO,Thiago JoséNEVES,Lucimara TeixeiraMACHADO,Maria Aparecida Andrade MoreiraSANTOS,Carlos FerreiraOLIVEIRA,Thais Marchinieng2018-09-17T00:00:00Zoai:scielo:S1806-83242014000100245Revistahttps://www.scielo.br/j/bor/https://old.scielo.br/oai/scielo-oai.phppob@edu.usp.br||bor@sbpqo.org.br1807-31071806-8324opendoar:2018-09-17T00:00Brazilian Oral Research - Sociedade Brasileira de Pesquisa Odontológica (SBPqO)false |
dc.title.none.fl_str_mv |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
title |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
spellingShingle |
Amelogenin gene influence on enamel defects of cleft lip and palate patients OLIVEIRA,Fernanda Veronese Amelogenin Dental Enamel Cleft Lip Cleft Palate |
title_short |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
title_full |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
title_fullStr |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
title_full_unstemmed |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
title_sort |
Amelogenin gene influence on enamel defects of cleft lip and palate patients |
author |
OLIVEIRA,Fernanda Veronese |
author_facet |
OLIVEIRA,Fernanda Veronese DIONÍSIO,Thiago José NEVES,Lucimara Teixeira MACHADO,Maria Aparecida Andrade Moreira SANTOS,Carlos Ferreira OLIVEIRA,Thais Marchini |
author_role |
author |
author2 |
DIONÍSIO,Thiago José NEVES,Lucimara Teixeira MACHADO,Maria Aparecida Andrade Moreira SANTOS,Carlos Ferreira OLIVEIRA,Thais Marchini |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
OLIVEIRA,Fernanda Veronese DIONÍSIO,Thiago José NEVES,Lucimara Teixeira MACHADO,Maria Aparecida Andrade Moreira SANTOS,Carlos Ferreira OLIVEIRA,Thais Marchini |
dc.subject.por.fl_str_mv |
Amelogenin Dental Enamel Cleft Lip Cleft Palate |
topic |
Amelogenin Dental Enamel Cleft Lip Cleft Palate |
description |
The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip and palate (CLP) and enamel defects (ED). A total of 165 patients were divided into four groups: with CLP and ED (n=46), with CLP and without ED (n = 34), without CLP and with ED (n = 34), and without CLP or ED (n = 51). Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation – 2.7%), 6 (30 mutations – 81.08%) and 7 (6 mutations – 16.22%) of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 – 23.75%), compared with those without CLP (groups 3 and 4 – 8.23%). In the groups without ED, this silent mutation was also found more significantly (p = 0.032) among subjects with CLP (17.65% in group 2), compared with those without CLP (7.8% in group 4). In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-83242014000100245 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1806-83242014000100245 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1807-3107BOR-2014.vol28.0035 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Pesquisa Odontológica - SBPqO |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pesquisa Odontológica - SBPqO |
dc.source.none.fl_str_mv |
Brazilian Oral Research v.28 n.1 2014 reponame:Brazilian Oral Research instname:Sociedade Brasileira de Pesquisa Odontológica (SBPqO) instacron:SBPQO |
instname_str |
Sociedade Brasileira de Pesquisa Odontológica (SBPqO) |
instacron_str |
SBPQO |
institution |
SBPQO |
reponame_str |
Brazilian Oral Research |
collection |
Brazilian Oral Research |
repository.name.fl_str_mv |
Brazilian Oral Research - Sociedade Brasileira de Pesquisa Odontológica (SBPqO) |
repository.mail.fl_str_mv |
pob@edu.usp.br||bor@sbpqo.org.br |
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1750318323822755840 |