1 / 15

SEQUENCING OF THE HUMAN GENOME FOR DIAGNOSIS Gustavo Rocha – T10 José Alberto Pereira – T9

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

raleigh
Download Presentation

SEQUENCING OF THE HUMAN GENOME FOR DIAGNOSIS Gustavo Rocha – T10 José Alberto Pereira – T9

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. SEQUENCING OF THE HUMAN GENOME FOR DIAGNOSIS Gustavo Rocha – T10 José Alberto Pereira – T9 Miguel Passos – T9 FMUC – BCM II

  2. Objectives • Thedifferentmethodsof DNA sequencing • TheHumanGenome Project • The importance of the human DNA sequencing in diagnosis • ExamplesoftheaplicationtheHuman DNA in diagnosis • Bioethics

  3. TheSanger’smethod

  4. MaxamGilbert’smethod

  5. Roche 454

  6. Solex - Ilumina

  7. SOLiD

  8. SOLiD

  9. SOLiD

  10. Developmentofthe DNA sequencing • TheHumanGenome Project wasstarted in 1990 andmarked a greatrevolution in alltheknowledgewehadabouttheHumanGenome

  11. The importance of the human DNA sequencing in diagnosis • Ability to compare the gene responsible for a diseasewiththe genes andproteinsknown can improve ourknowledgeaboutthe cause ofthedisease. • Themain objective ofthesequencingis to identifythe genes that are expressedandthiswaygettheinformationabouttheaminoacidsthat can befound in theproteinspresent in theorganismofthepersonthatisunderstudy

  12. The importance of the human DNA sequencing in diagnosis DNA Sequencing Database (GenBank,etc.) Identifythedisease

  13. ExamplesoftheaplicationtheHuman 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 RB1gene. Breastcancer - 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

  14. Bioethics

  15. 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

More Related