1. O uso da plataforma HPC na
descoberta de doenças genéticas
David Santos Marco Antonio. PhD
Profa. Maria Rita Passos Bueno
Laboratório de Genética do Desenvolvimento Humano
Departamento de Genética e Biologia Evolutiva
Instituto de Biociências - USP
Finding the variability that could
explain genetic disorders.
2. DNA : Chromosome : Genes
DNA: A T C G
Chromosomes:
1 – 22
X and/or Y
Mitochondrial
5. Human genetic variation in populations
• Genes on the same order
• Mapped using reference genome: hg19, GRCh38.
• Variability among relatives/populations.
• Susceptibility to diseases.
• Improvements.
Falar sobre populações
1000Genomes
7. Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease 17p
Charcot–Marie–Tooth disease
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemochromatosis P 6
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis 17q/22q/?
Phenylketonuria P 12q
Polycystic kidney disease P 16 (PKD1) or 4 (PKD2)
Prader–Willi syndrome DC 15
Sickle-cell disease P 11p
Tay–Sachs disease P 15
Turner syndrome C X
P – Point mutation: InDel.
D – Deletion of gene.
C – Whole chromosome
extra/missing.
T – Nucleotide repeat disorders.
Human Genetic Diseases
15. Acknowledgements
• LCCA
• Guys in LCCA
• Guys in LCCA
• Profa. Maria Rita Passos Bueno
• Laboratório de Genética do Desenvolvimento Humano
• Instituto de Biociências.
• USP