DEVELOPMENT OF NEW GENETIC APPROACHES AND THEIR APPLICATION IN THE DIAGNOSIS OF MENDELIOME DISEASES
Makaleler > Tam Makale · 2020
Yazarlar: Afig Berdeli
Zenodo (CERN European Organization for Nuclear Research), Uluslararası, 2020
Özet
Since the existence of human kind, they wondered what was happening around them, tried to understand and tried to overcome the difficulties they faced by doing new discoveries. Supportive and complementary researches carried out by scientists from past to present form the basis of today's technologies. In 1977, two different DNA sequence analysis methods were found by Allan MAXAM- Walter GILBERT and Frederick SANGER. In 1982, Akiyoshi proposed automatic analysis of DNA sequence and robots have begun to be developed. These types of studies have brought up the sequencing of the entire human genome. The Human Genome Project was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years. In its early days, the Human Genome Project was met with skepticism by many people, including scientists and nonscientists alike. One prominent question was whether the huge cost of the project would outweigh the potential benefits. Today, however, the overwhelming success of the Human Genome Project is readily apparent. Not only did the completion of this project usher in a new era in medicine, but it also led to significant advances in the types of technology used to sequence DNA. The Human Genome Project, the mapping of our 30 000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The purpose of the human genome project is to find genes and describe what they do. This is an important distinction from some of the previous approaches to genetics because the aim is not to define function at this stage but to focus on mapping the genes and clarifying their sequence. It was announced that the participants of the Human Genome Project and Celera completed the draft of the human gene map in June 2000. A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder) or by mutations in multiple genes (genetic heterogeneicity). Genetic Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.