SCIENCEAn
architect uses project plans to understand the relationships between
structural variables of work and look for ways or alternatives to improve it. In
the same way, a computer engineer goes to the source code of a program
to modify and change those commands that cause inefficiencies and should
be changed. Humans also has its own design, imperfect by nature admirably. One
day, we decided our dissatisfaction with their outcome and, although
the author will agree or not, we have to change our "piacere". To do this you have to know the plans, our source code, our human genome.The human genome is the DNA sequence contained in 23 pairs of chromosomes in the nucleus of every human cell.
Of
the 23 pairs, 22 are autosomal chromosomes and sex-determining pair
(two X chromosomes in females and one X and one Y in males). Haploid
genome (ie, with a single representation of each pair) has a total
length of approximately 3.2 billion base pairs of DNA containing the
approximately 20,000-25,000 genes.nDe. The Human Genome Project produced a reference sequence of the human genome, used worldwide in biomedical sciences.
DNA
sequence that forms the human genome contains encoded information
necessary for expression, highly coordinated and adaptable to the
environment, the human proteome, ie the set of human proteins. Proteins,
and DNA are major effector biomolecules; possess structural features,
enzymatic, metabolic, regulatory, signaling, organized in huge networks
of functional interactions. Ultimately, the particular morphology based proteome and function of each cell. Furthermore,
the structural and functional organization of the various cells formed
every tissue and organ, and finally, the living organism as a whole. Thus, the human genome contains the basic information required for the physical development of a complete human being.
Genetic
diseases can be caused by mutation of the DNA sequence, with
involvement of the coding sequence (producing proteins incorrect) or
regulatory sequences (by altering the expression level of a gene) or
chromosomal abnormalities, numerical or structural. Altering the genome of germ cells of an individual is often transmitted to their offspring. Currently the number of known genetic diseases is approximately 4,000, with the most common cystic fibrosis.
The
results of the Human Genome Project are of great importance for the
identification of new genetic diseases and to develop new and improved
systems for genetic diagnosis as well as for research into new
treatments, including gene therapy.
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