Banca de DEFESA: GUSTAVO HENRIQUE DE MEDEIROS OLIVEIRA

Uma banca de DEFESA de DOUTORADO foi cadastrada pelo programa.
DISCENTE : GUSTAVO HENRIQUE DE MEDEIROS OLIVEIRA
DATA : 27/04/2019
HORA: 14:30
LOCAL: Sala 112 - UNP Salgado Filho
TÍTULO:

(Application of high-resolution array platform for genome-wide Copy Number Variation (CNV) analysis in patients with nonsyndromic cleft lip and palate

PALAVRAS-CHAVES:

array-CGH; CNV; Oral cleft; Nonsyndromic cleft

PÁGINAS: 32
GRANDE ÁREA: Ciências da Saúde
ÁREA: Farmácia
RESUMO:

Although more than 14 loci may be involved with the development of Nonsyndromic Cleft lip and/or palate, the precise etiology has not been fully elucidated and there is a confounding with syndromic forms. The traditional genetic mapping strategies have recently been complemented by the powerful tool of array-CGH, able to scan the whole genome at once and detect copy-number variants (CNVs). Although previous studies report that common benign CNVs are often smaller in size, with the majority of benign CNVs smaller than 20 kb here we reveal exonic small CNVs based on the importance of the encompassed genes to CLP. Array-CGH analysis of 15 DNA samples from oral cleft individuals identified 11 exonic CNVs affecting at least one exon of the candidate genes. Thirteen candidate genes (COL11A1, IRF6, MSX1, TERT, MIR4457, CLPTM1L, ESR1, GLI3, FGFR1, TBX1, OFD1, PHF8, and FLNA) were overlapped with the CNVs identified. Taking into account criteria such as size, number of markers and frequency in our-house control group and in DGV database, the microdeletions that encompass the MSX1 gene; the microduplications over the three genes TERT, MIR4457, CLPTM1L; and the microduplication on PHF8 gene stood out. The individual significance of genome-wide small CNVs has not been well elucidated in a clinical context, in oral clefts studies, little is known about the importance of small CNVs detected by array-CGH for genetic diagnosis and gene discovery. Our findings represent an initial search of the clinical significance of small CNVs and its relationship with genes implicate in the development of Nonsyndromic Cleft lip and/or palate.

MEMBROS DA BANCA:
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Interno - 6349161 - GERALDO BARROSO CAVALCANTI JUNIOR
Externo ao Programa - 1663052 - IVANISE MARINA MORETTI REBECCHI
Externo à Instituição - MARIA LEILA CARDOSO - NENHUMA
Externo à Instituição - TARSIS ANTONIO PAIVA VIEIRA - UNICAMP