Banca de QUALIFICAÇÃO: JOAO FELIPE BEZERRA

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
DISCENTE: JOAO FELIPE BEZERRA
DATA: 14/10/2014
HORA: 09:00
LOCAL: SALA DE AULA 02 - PPGCSA
TÍTULO:

Study of association of IRF6 polymorphisms and Nonsyndromic Cleft lip/palate

PALAVRAS-CHAVES:

Nonsyndromic Cleft lip/palate, IRF6, MSX1, Polymorphisms

PÁGINAS: 17
GRANDE ÁREA: Ciências da Saúde
ÁREA: Farmácia
RESUMO:

Background: Nonsyndromic cleft lip/palate is a common birth defect that has both genetic and environmental factors contributing to its etiology, but remains poorly understood. Recently IRF6 is the most consistent finding for genetic etiology of NSCLP. Methodology: A total of 186 NSCLP patients and 182 control individuals were recruited. Blood samples were obtained to perform DNA extraction and to analysis of IRF6 polymorphisms (rs1044516, rs2236907, rs2235371, rs642961 and rs861019) and to MSX1 polymorphisms (rs3775261, rs6446693, rs4464513, rs12532, rs1042484 and rs1907998) by real time PCR using pré-designed assays. Principal findings: There were significant differences in the genotype frequencies of rs2235371 (OR: 11.24 CI 95%: 1.97-64.22, p=0.016) in CPO group compared with control. One haplotype block was constructed in this region between rs861019 and rs642961. Combinatorial analysis of IRF6 polymorphisms showed some allelic combination significantly associated with NSCLP, as was also observed for the combinatorial analysis of MSX1 polymorphisms. Conclusion/Significance: IRF6 was associated with NSCLP and alleles combinations of MSX1 polymorphisms and also of IRF6 polymorphisms demonstrate its association with NSCLP. 

MEMBROS DA BANCA:
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Externo ao Programa - 1542822 - FABIANA CRISTINA MENDONCA DE ARAUJO
Interno - 350485 - HEBEL CAVALCANTI GALVAO