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Human Genome project
Began1990 estimated it would take 15 years but took only13 due to technological advancements
Genome all the DNA sequences contained in the chromosomes of an organism
Genes carry information for making all proteins (which determine appearance of organism, how it fights
Human DNA 3 billion bases, 20,00025,000 genes
Identify all the genes formed by bases
Determine the sequences of the 4 bases, A,T,C and G throughout all of human DNA
Find the location of the genes on the 23 human chromosomes
Store this information on databases
Improve tools for data analysis
Transfer related technologies to the private sector
Address the ethical, legal and social issues that may arise from the project
The information found allows scientists to know exactly which sections of DNA, on which
chromosomes, are responsible for the many inherited diseases.
Gene tests patients DNA sample is scanned for mutated sequences.
o DNA sample can be taken from any tissue, Inc. blood.
o Some genetic tests short pieces of DNA called probes used
Complementary to the mutated sequences
Look for their complement along 3 billion base pairs of genome. If mutation is present, the
probe will bind to it and flag it up.
o Another test involves comparing DNA base sequence of patient with normal version of gene
o Cost expensive and depends on sizes of genes and no of mutations tested
Carrier screening identifying unaffected carriers for recessive disorders
o Testing if a person has faulty gene that causes Cystic Fibrosis. Carrier may decide not to have
children or to have an antenatal genetic test to check if child will have CF.
o Cases of Thalassemia (blood anaemia condition) are decreasing due to genetic testing
Preimplantation genetic diagnosis
Prenatal diagnostic testing
New born baby testing
Presymptomatic testing for predicting adultonset disorders e.g. Huntington's
Presymptomatic testing for estimating risk of developing adultonset cancers/ Alzheimer's
o Conditions caused by genes and environment
o People at greatest risk can be screened at regularly / given advice on how to reduce risk
o Base sequence of gene known possible to find protein it codes for. Once structure of protein is
known, drugs that fit molecules perfectly could be designed.
o Prevention rather than cure more cost effective
Confirmation that individual has suspected disease