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Human Genome


The human genome is a set of nucleic acid sequences in a cell of a human organism. It contains hereditary information. The human genome consists of 23 chromosome pairs (22 pairs of autosomal chromosomes and one pair of sex chromosomes X and Y) placed in cell nuclei and in a small deoxyribonucleic acid (DNA) molecule in mitochondria. An approximately three billion of base pairs of DNA make up the entire set of chromosomes of the human body.

The human genome includes both protein-coding regions of DNA and noncoding regions. The first ones encode all the human genes. The coding DNA sequences account for 20—25 hundred active genes, however, it is only 1.5% of the genome. The rest ones do not encode any genes. These are non-coding RNA genes, regulatory DNA sequences, LINEs, SINEs, introns, and some other objects the function of which is non-clarified.

A lot of researches on the study of the human genome was conducted in the last decades. The first human genome sequences were published in February 2001 by the Celera Corporation and Human Genome Project. By 2004 almost all DNA sequence of the human genome was disclosed by DNA sequencing method, just 341 gaps in the sequence left. The completion of the Human Genome Project's sequencing was announced by the publication of a draft genome sequence. These data gave a good base for developing the whole biomedical science, genetics, anthropology, forensics, and much more from this area. They triggered new discoveries in the medical field and influenced progress in the diagnosis and treatment of different diseases. However, the sequence of the human genome is not yet fully understood at the moment.

The human genome is a unique sequence. It contains the fundamental information about a human, about the capability of a body to replicate, repair, renew the cells, survive, and maintain itself. There are no two identical human genomes on Earth, except the genomes of identical twins.

The human genome is represented as a collection of long polymers of DNA composed of constituent bases of adenine (A), cytosine (C), guanine (G), and thymine (T). Moreover, this sequence is not static, the different changes permanently arise in it and these can be as advantageous or neutral changes, as harmful. Being passed from a parent to child in a worse case they can even cause a decrease of surviving or fertility.

Human Genome Study and Documentation in ConceptDraw DIAGRAM

Example 1. Human Genome

The human's genome contains all changes that happened to his ancestors. To track the genealogical tree, ancestors, and interactions within a family over multiple generations and to identify patterns the Genograms are used. A special type of Genograms including a graphical representation of the medical conditions for the family members, family history of illnesses is called a Medical Family Genogram. The diagrams of this type can be easily designed in ConceptDraw DIAGRAM software using the tools of the Genogram solution. Typically, it includes information about age, diseases and hereditary traits, cause of death, and much more information from medical history. These data are important for future generations in order to warn about the risks and predisposition for some diseases.

Medical Family Genogram

Example 2. Medical Family Genogram

The illustrations you see on this page were created in ConceptDraw DIAGRAM software using the drawing tools of the Genogram Solution. They successfully demonstrate the solution's capabilities and professional results you can achieve. An experienced user spent 10-15 minutes creating each of them.

Use the powerful tools of the Genogram Solution for ConceptDraw DIAGRAM software to create your own illustrations and diagrams of any complexity fast and easy, and then successfully use them in your work activity.

All source documents are vector graphic documents. They are available for reviewing, modifying, or converting to a variety of formats (PDF file, MS PowerPoint, MS Visio, and many other graphic formats) from the ConceptDraw STORE. The Genogram Solution is available for all ConceptDraw DIAGRAM users.

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DIAGRAM 17