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

SOLiD

SOLiD

SOLiD

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