19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism

Detalhes bibliográficos
Autor(a) principal: Mendes,Cristiani Cortez
Data de Publicação: 2010
Outros Autores: Biselli,Joice Matos, Zampieri,Bruna Lancia, Goloni-Bertollo,Eny Maria, Eberlin,Marcos Nogueira, Haddad,Renato, Riccio,Maria Francesca, Vannucchi,Hélio, Carvalho,Valdemir Melechco, Pavarino-Bertelli,Érika Cristina
Tipo de documento: Artigo
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802010000400008
Resumo: CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). DESIGN AND SETTING: Analytical cross-sectional study carried out at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS: 105 mothers of individuals with free trisomy of chromosome 21, and 184 control mothers were evaluated. Molecular analysis on the polymorphism was performed using the polymerase chain reaction (PCR) through differences in the sizes of fragments. Folate was quantified by means of chemiluminescence, and Hcy and MMA by means of liquid chromatography and sequential mass spectrometry. RESULTS: There was no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). The folate, Hcy and MMA concentrations did not differ significantly between the groups, in relation to genotypes (P > 0.05). CONCLUSIONS: The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population.
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spelling 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolismDown syndromePolymorphism, geneticFolic acidNondisjunction, geneticRisk factorsCONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). DESIGN AND SETTING: Analytical cross-sectional study carried out at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS: 105 mothers of individuals with free trisomy of chromosome 21, and 184 control mothers were evaluated. Molecular analysis on the polymorphism was performed using the polymerase chain reaction (PCR) through differences in the sizes of fragments. Folate was quantified by means of chemiluminescence, and Hcy and MMA by means of liquid chromatography and sequential mass spectrometry. RESULTS: There was no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). The folate, Hcy and MMA concentrations did not differ significantly between the groups, in relation to genotypes (P > 0.05). CONCLUSIONS: The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population.Associação Paulista de Medicina - APM2010-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802010000400008Sao Paulo Medical Journal v.128 n.4 2010reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802010000400008info:eu-repo/semantics/openAccessMendes,Cristiani CortezBiselli,Joice MatosZampieri,Bruna LanciaGoloni-Bertollo,Eny MariaEberlin,Marcos NogueiraHaddad,RenatoRiccio,Maria FrancescaVannucchi,HélioCarvalho,Valdemir MelechcoPavarino-Bertelli,Érika Cristinaeng2010-11-22T00:00:00Zoai:scielo:S1516-31802010000400008Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2010-11-22T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
title 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
spellingShingle 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
Mendes,Cristiani Cortez
Down syndrome
Polymorphism, genetic
Folic acid
Nondisjunction, genetic
Risk factors
title_short 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
title_full 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
title_fullStr 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
title_full_unstemmed 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
title_sort 19-base pair deletion polymorphism of the dihydrofolate reductase (DHFR) gene: maternal risk of Down syndrome and folate metabolism
author Mendes,Cristiani Cortez
author_facet Mendes,Cristiani Cortez
Biselli,Joice Matos
Zampieri,Bruna Lancia
Goloni-Bertollo,Eny Maria
Eberlin,Marcos Nogueira
Haddad,Renato
Riccio,Maria Francesca
Vannucchi,Hélio
Carvalho,Valdemir Melechco
Pavarino-Bertelli,Érika Cristina
author_role author
author2 Biselli,Joice Matos
Zampieri,Bruna Lancia
Goloni-Bertollo,Eny Maria
Eberlin,Marcos Nogueira
Haddad,Renato
Riccio,Maria Francesca
Vannucchi,Hélio
Carvalho,Valdemir Melechco
Pavarino-Bertelli,Érika Cristina
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Mendes,Cristiani Cortez
Biselli,Joice Matos
Zampieri,Bruna Lancia
Goloni-Bertollo,Eny Maria
Eberlin,Marcos Nogueira
Haddad,Renato
Riccio,Maria Francesca
Vannucchi,Hélio
Carvalho,Valdemir Melechco
Pavarino-Bertelli,Érika Cristina
dc.subject.por.fl_str_mv Down syndrome
Polymorphism, genetic
Folic acid
Nondisjunction, genetic
Risk factors
topic Down syndrome
Polymorphism, genetic
Folic acid
Nondisjunction, genetic
Risk factors
description CONTEXT AND OBJECTIVE: Polymorphisms in genes involved in folate metabolism may modulate the maternal risk of Down syndrome (DS). This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). DESIGN AND SETTING: Analytical cross-sectional study carried out at Faculdade de Medicina de São José do Rio Preto (Famerp). METHODS: 105 mothers of individuals with free trisomy of chromosome 21, and 184 control mothers were evaluated. Molecular analysis on the polymorphism was performed using the polymerase chain reaction (PCR) through differences in the sizes of fragments. Folate was quantified by means of chemiluminescence, and Hcy and MMA by means of liquid chromatography and sequential mass spectrometry. RESULTS: There was no difference between the groups in relation to allele and genotype frequencies (P = 0.44; P = 0.69, respectively). The folate, Hcy and MMA concentrations did not differ significantly between the groups, in relation to genotypes (P > 0.05). CONCLUSIONS: The 19-bp deletion polymorphism of DHFR gene was not a maternal risk factor for DS and was not related to variations in the concentrations of serum folate and plasma Hcy and MMA in the study population.
publishDate 2010
dc.date.none.fl_str_mv 2010-07-01
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=S1516-31802010000400008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802010000400008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-31802010000400008
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 Associação Paulista de Medicina - APM
publisher.none.fl_str_mv Associação Paulista de Medicina - APM
dc.source.none.fl_str_mv Sao Paulo Medical Journal v.128 n.4 2010
reponame:São Paulo medical journal (Online)
instname:Associação Paulista de Medicina
instacron:APM
instname_str Associação Paulista de Medicina
instacron_str APM
institution APM
reponame_str São Paulo medical journal (Online)
collection São Paulo medical journal (Online)
repository.name.fl_str_mv São Paulo medical journal (Online) - Associação Paulista de Medicina
repository.mail.fl_str_mv revistas@apm.org.br
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