Banca de QUALIFICAÇÃO: RAUL MAIA FALCÃO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : RAUL MAIA FALCÃO
DATE: 28/11/2019
TIME: 15:00
LOCAL: BioME - PPg-Bioinfo
TITLE:

AUTOSOMAL ALPORT: A STUDY OF TWO POTIGUARS FAMILIES

KEY WORDS:

Alport Syndrome, whole exome sequencing, runs of homozygosity, kidney diseases, collagen type IV.

PAGES: 50
BIG AREA: Ciências Biológicas
AREA: Biologia Geral
SUMMARY:

Alport syndrome (AS) is a hereditary type IV collagen nephropathy characterized by progressive loss of hearing and renal function during early childhood. Early diagnosis can lead to appropriate treatment before the onset of end-stage renal failure and thus improve life expectancy. This research developed in this study investigated whether there is a relationship between structural changes in type IV collagen genes and AS. Also, this study consisted of sequencing the exome of two families (Fam1 and Fam2) from Rio Grande do Norte (RN), both composed of 4 individuals and then mapped against the human genome (build hg38). Then, a screening was performed to search for deleterious variants. The results pointed out two deleterious variants on chromosome 2: one in COL4A3 - present in Fam1 - and one in COL4A4 - present in Fam2. Both variants were detected with alternative allele at homozygous state in the probands and at heterozygous state in others members of family. Both variants have led to premature gene truncation and are located around a broad region of runs of homozygosity (ROH). Finally, our results showed that structusral alterations in genes of collagen type IV were present in AS and which factors of historic-cultural also influence the relationship genotype-phenotype, thus contributing to the understanding of the complexity of the inheritance of AS.

BANKING MEMBERS:
Presidente - 2170415 - JORGE ESTEFANO SANTANA DE SOUZA
Interna - 2261797 - TIRZAH BRAZ PETTA LAJUS