sequencing of the human genome for diagnosis gustavo rocha – t10 josé alberto pereira –...
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SEQUENCING OF THE HUMAN GENOME FOR DIAGNOSIS Gustavo Rocha – T10 José Alberto Pereira – T9 Miguel Passos – T9 FMUC – BCM II. Objectives. The different methods of DNA sequencing The Human Genome Project The importance of the human DNA sequencing in diagnosis - PowerPoint PPT PresentationTRANSCRIPT
SEQUENCING OF THE HUMAN GENOME FOR DIAGNOSIS
Gustavo Rocha – T10 José Alberto Pereira – T9Miguel Passos – T9
FMUC – BCM II
Objectives
• The different methods of DNA sequencing• The Human Genome Project• The importance of the human DNA sequencing in
diagnosis• Examples of the aplication the Human DNA in
diagnosis• Bioethics
The Sanger’s method
Maxam Gilbert’s method
Roche 454
Solex - Ilumina
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Development of the DNA sequencing
• The Human Genome Project was started in 1990 and marked a great revolution in all the knowledge we had about the Human Genome
The importance of the human DNA sequencing in diagnosis
• Ability to compare the gene responsible for a disease with the genes and proteins known can improve our knowledge about the cause of the disease.
• The main objective of the sequencing is to identify the genes that are expressed and this way get the information about the aminoacids that can be found in the proteins present in the organism of the person that is under study
The importance of the human DNA sequencing in diagnosis
DNA Sequencing
Database (GenBank,etc.)
Identify the disease
Examples of the aplication the Human DNA in diagnosis
The E4 lipoprotein variant is an exception and definitely increases the risk of the common form of Alzheimer disease 3/4 times.
Retinoblastoma (a rare type of eye cancer that typically affects young children) - increased risk from variations of the RB1 gene.
Breast cancer - increased risk from variations of the BRCA1 and BRCA2 genes.
DAOA/G30 locus has been described to be associated with both schizophrenia and bipolar disorder.
Susceptibility to HIV infection is known to be genetically determined by the presence or absence of the T-cell CCR5 receptor to the HIV
Bioethics
Bibliography• http://www.sciencedaily.com/releases/2012/06/120625064746.htm• http://www.ncbi.nlm.nih.gov/pubmed/23035047• http://www.technologyreview.com/news/423226/making-genome-sequencing-part-of-
clinical-care/• http://biotech.about.com/od/technicaltheory/a/The-Impact-Of-Whole-Genome-Dna-
Sequencing-On-Health-Care.htm• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1363767/• Nelson, David; Cox, Michael; Lehninger Principles of Biochemistry, Four Edition, 2005• http://www.asgct.org/about_gene_therapy/diseases.php