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Previous issue date: 2010-02-23 / Funda??o de Amparo a Pesquisa do Estado de S?o Paulo / The congenital facial clefts are characterized by incomplete formation of
the structures that separate the oral and nasal cavity. It is known that several
environmental and genetic factors are involved in its development, among these,
polymorphisms associated with folic acid metabolism have been investigated. In this
sense, the objective was to observe the frequency of polymorphisms C677T and
A1298C methylenetetrahydrofolate reductase gene (MTHFR), methionine synthase
A2756G of (MTR), A66G of methionine synthase reductase (MTRR) A80G and the
reduced folate carrier (RFC1) in patients with non-syndromic oral clefts, trying to match
them with their development. Methods: We studied 140 patients with non-syndromic
oral clefts and their mothers and 175 control subjects with their mothers, who
underwent a questionnaire to obtain family information. Were collecting blood for DNA
extraction from patients and their mothers to identify the genotypes of both by PCRRFLP,
in addition to carrying out the determination of glucose, AST, ALT and serum
creatinine, folic acid and vitamin B12 Serum and plasma homocysteine, and the
hemogram. Results: Most patients have cleft lip and palate (55.8%), followed by
isolated cleft palate (24.2%) and cleft lip (20%). Regarding gender, 62% of patients
were male and 48% female and, after subdivision of the type of screwdriver according
to sex was found a prevalence of males in the cracks of the type lip and palate (69 %)
and lip (69.2%) and in the case of cleft palate was a female predominance (59%). The
average concentration of serum folate in the group of mothers of cleft patients was
significantly lower (13.8 ? 2.4 ng / mL) compared with the group of mothers of control
subjects (18.8 ? 3.4 ng / mL) This was also observed for the group of cleft children as
compared to controls, the dosage of folic acid had a significant difference with values of
15.6 ? 0.6 (ng / mL) and 17.9 ? 0.6 (ng / mL), respectively. For the biochemical
measurements of glucose, AST, ALT and creatinine were not statistically different, nor
was observed for haematological parameters performed. In assessing the frequency of
polymorphisms C677T and A1298C MTHFR, A2756G MTR, MTRR A66G and A80G
of the RFC1 there was no statistically significant difference in genotype distribution
between cases and controls both for mothers and in the cleft. Conclusion: Although not
observed association of polymorphisms with the development of cracks, the decrease in
serum folate in the group of cleft patients and their mothers may reflect a disturbance in
the metabolism of this metabolite, necessitating further studies such as studies
methylation and expression to further elucidate the involvement of folate in the
development of oral clefts / As fendas orais s?o malforma??es caracterizadas pela forma??o
incompleta das estruturas que separam a cavidade nasal e oral. Sabe-se que v?rios
fatores ambientais e gen?ticos est?o envolvidos no seu desenvolvimento, dentre esses,
polimorfismos associados ao metabolismo do ?cido f?lico t?m sido alvo de estudos.
Neste sentido, o objetivo deste trabalho foi observar a freq??ncia dos polimorfismos
C677T e o A1298C do gene da Metilenotetrahidrofolato redutase (MTHFR), A2756G
da Metionina Sintase (MTR), A66G da Metionina Sintase Redutase (MTRR) e A80G
do Transportador de folato reduzido (RFC1) em pacientes portadores de fendas orais
n?o-sindr?micas, buscando associ?-los ao desenvolvimento das mesmas. Casu?stica e
M?todos: Foram avaliados 140 portadores de fendas orais n?o-sindr?micas e suas m?es
e 175 indiv?duos controles com suas m?es, que foram submetidos a um question?rio
familiar para obten??o de informa??es. Foi realizada a coleta de sangue para extra??o
do DNA dos pacientes e de suas m?es para identifica??o dos gen?tipos de ambos
atrav?s de PCR-RFLP, al?m da realiza??o das dosagens de glicose, AST, ALT e
creatinina s?ricos, dosagens de ?cido f?lico e vitamina B12 s?ricos e homociste?na
plasm?tica, al?m da realiza??o de hemograma. Resultados: A maioria dos pacientes s?o
portadores de fenda l?bio-palatina (55,8%), seguida da fenda palatina isolada (24,2%) e
da fenda labial (20%). Em rela??o ao sexo, 62% dos pacientes e s?o do sexo masculino
e 48% do sexo feminino e, ap?s subdivis?o do tipo de fenda de acordo com o sexo
constatou-se uma preval?ncia do sexo masculino nas fendas do tipo l?bio-palatina
(69%) e labial (69,2%) e no caso das fendas palatinas isoladas houve uma
predomin?ncia do sexo feminino (59%). A concentra??o m?dia de ?cido f?lico s?rico no
grupo das m?es de pacientes fissurados foi significativamente inferior (13,8?2,4ng/mL)
quando comparada com o grupo das m?es dos indiv?duos controles (18,8?3,4ng/mL), o
que tamb?m foi observado para o grupo dos pacientes fissurados quando comparado aos
filhos controles, a dosagem de ?cido f?lico apresentou diferen?a significante com
valores de 15,6?0,6(ng/mL) e 17,9?0,6(ng/mL), respectivamente. Para as dosagens
bioqu?micas de glicose, AST, ALT e creatinina n?o foram observadas diferen?as
estat?sticas, assim como n?o foi observado para os par?metros hematol?gicos
realizados. Na avalia??o da freq??ncia dos polimorfismos C677T e A1298C da
MTHFR, A2756G da MTR, A66G da MTRR e A80G do RFC1 n?o foi observada
diferen?a estatisticamente significante na distribui??o dos gen?tipos entre caso e
controle tanto em rela??o as m?es quanto nos pacientes fissurados. Conclus?o: Apesar
de n?o ter sido observada associa??o dos polimorfismos estudados com o
desenvolvimento das fendas, a diminui??o na concentra??o s?rica de ?cido f?lico no
grupo dos pacientes fissurados e de suas m?es pode refletir algum dist?rbio no
metabolismo desse metab?lito, sendo necess?rio mais estudos como estudos de
metila??o e express?o para melhor elucidar o envolvimento do ?cido f?lico no
desenvolvimento das fendas orais
| Identifer | oai:union.ndltd.org:IBICT/oai:repositorio.ufrn.br:123456789/13483 |
| Date | 23 February 2010 |
| Creators | Bezerra, Jo?o Felipe |
| Contributors | CPF:05410395808, http://lattes.cnpq.br/4245215108740331, Jer?nimo, Selma Maria Bezerra, CPF:15603016434, http://buscatextual.cnpq.br/buscatextual/visualizacv.do?id=K4785584A3&dataRevisao=null, Alho, Clarice Sampaio, CPF:50955675049, http://lattes.cnpq.br/9777434407315395, Rezende, Adriana Augusto de |
| Publisher | Universidade Federal do Rio Grande do Norte, Programa de P?s-Gradua??o em Ci?ncias Farmac?uticas, UFRN, BR, Bioan?lises e Medicamentos |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Format | application/pdf |
| Source | reponame:Repositório Institucional da UFRN, instname:Universidade Federal do Rio Grande do Norte, instacron:UFRN |
| Rights | info:eu-repo/semantics/openAccess |
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