Amelogenin gene influence on enamel defects of cleft lip and palate patients
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 wi...
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Published in | Brazilian oral research Vol. 28; no. 1; pp. 1 - 6 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Brazil
Sociedade Brasileira de Pesquisa Odontológica - SBPqO
2014
Sociedade Brasileira de Pesquisa Odontológica |
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ISSN | 1806-8324 1807-3107 1807-3107 |
DOI | 10.1590/1807-3107BOR-2014.vol28.0035 |
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Abstract | 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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AbstractList | 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. 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.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. |
Author | NEVES, Lucimara Teixeira MACHADO, Maria Aparecida Andrade Moreira DIONÍSIO, Thiago José OLIVEIRA, Fernanda Veronese SANTOS, Carlos Ferreira OLIVEIRA, Thais Marchini |
AuthorAffiliation | University of São Paulo |
AuthorAffiliation_xml | – name: University of São Paulo |
Author_xml | – sequence: 1 givenname: Fernanda Veronese surname: OLIVEIRA fullname: OLIVEIRA, Fernanda Veronese organization: University of São Paulo, Brazil – sequence: 2 givenname: Thiago José surname: DIONÍSIO fullname: DIONÍSIO, Thiago José organization: University of São Paulo, Brazil – sequence: 3 givenname: Lucimara Teixeira surname: NEVES fullname: NEVES, Lucimara Teixeira organization: University of São Paulo, Brazil – sequence: 4 givenname: Maria Aparecida Andrade Moreira surname: MACHADO fullname: MACHADO, Maria Aparecida Andrade Moreira organization: University of São Paulo, Brazil – sequence: 5 givenname: Carlos Ferreira surname: SANTOS fullname: SANTOS, Carlos Ferreira organization: University of São Paulo, Brazil – sequence: 6 givenname: Thais Marchini surname: OLIVEIRA fullname: OLIVEIRA, Thais Marchini organization: University of São Paulo, Brazil |
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CitedBy_id | crossref_primary_10_1177_0022034519854973 crossref_primary_10_3390_foods10102291 crossref_primary_10_3390_jpm11111135 crossref_primary_10_5897_AJBR2015_0856 crossref_primary_10_1007_s00784_023_05370_y crossref_primary_10_1159_000444870 crossref_primary_10_1177_0300060519832165 crossref_primary_10_20396_bjos_v23i00_8671330 crossref_primary_10_15446_revfacmed_v64n2_53551 |
Cites_doi | 10.1597/02-152.1 10.1177/10454411980090020101 10.1111/j.1601-6343.2007.00407.x 10.1111/j.1365-263X.2006.00813.x 10.1159/000324339 10.1016/j.ejmg.2008.02.009 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N 10.1177/0022034510389177 10.1002/ajmg.a.31358 10.1159/000151378 10.1111/j.1601-6343.2007.00384.x 10.1111/j.1601-0825.2010.01766.x 10.1159/000091383 10.1016/j.acthis.2010.05.007 10.1007/s10528-010-9392-6 10.1111/j.1600-0722.1998.tb02188.x 10.1016/j.archoralbio.2007.06.001 10.1177/154405910508401206 10.1177/0022034513482941 10.1597/1545-1569(1990)027<0121:AOHEGI>2.3.CO;2 10.1111/j.1365-263X.2011.01142.x 10.1159/000231571 10.1007/BF03321606 10.1111/j.1601-0825.2011.01887.x 10.1590/S1678-77572012000100003 |
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Keywords | Cleft Palate Cleft Lip Dental Enamel Amelogenin |
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Snippet | 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... |
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SubjectTerms | Adolescent Amelogenesis - genetics Amelogenin Amelogenin - genetics Case-Control Studies Child Cleft Lip Cleft Lip - genetics Cleft Palate Cleft Palate - genetics Dental Enamel Dental Enamel - abnormalities DENTISTRY, ORAL SURGERY & MEDICINE Female Humans Male Mutation - genetics Polymerase Chain Reaction Sequence Analysis, DNA |
Title | Amelogenin gene influence on enamel defects of cleft lip and palate patients |
URI | https://www.ncbi.nlm.nih.gov/pubmed/25166767 https://www.proquest.com/docview/1558519297 http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1806-83242014000100245&lng=en&tlng=en https://doaj.org/article/29c713aeb6f44f8581b8ecd26ba70df8 |
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