Determination of HLA B * 27 allele in the Czech population and its importance for the diagnosis of Bechterew's disease

Bechterew's disease, also known as the ankylosing spondylitis, is a chronic lifelong disease, which is three times more likely to affect men than women. The first symptoms usually appear between 15 and 30 year of age. It affects ligaments, joint capsules, tendons, joints between the vertebrae and ribs, etc. With time, inflammations reduce the spinal and thoracic motions and decrease the respiratory capacity of the lungs. The disease was observed early in the history, but only got its name in 1893. It was named after the Russian neurologist Vladimir Bechterev. The exact cause of this disease is still not clear, but the association between AS and the presence of allele HLA-B*27 is wellknown. The practical part of my thesis was conducted in the genetic laboratory GENLABS s.r.o. in Ceske Budejovice under the supervision of Mgr. Dagmar Riegert Bystřická, Ph.D. The aim was to isolate the DNA from the buccal swab and peripheral blood and the subsequent preparation and execution of PCR reaction with the following steps; checking the PCR reaction products by gel electrophoresis, their visualization using a detection system and their substraction. This bachelor thesis contains information about the Bechterew's disease, its history,symptoms, pathogenesis, heredity, etc. It also summarizes information about the HLA molecules, especially the HLA-B*27 allele, which is crucially/essentially associated with this disease, and influences its occurrence across the population. People with the HLA-B*27 allele are 300 times more likely to suffer from this disorder than those without it. The presence of this allele does not (necessarily) guarantee affection by the Bechterew's disease, however, those with the HLA-B*27 allele are at higher risk of developing the disease. Some of the existing subtypes of the HLA-B*27, such as HLAB * 27: 06 and HLA-B * 27: 09, are presumably not associated with this disease in any way