|
|
Application of the method RFLP PCR , PCR ARMS and reverse hybridization for detecting the most common thrombophilic mutations in the Czech population
MATĚJKOVÁ, Markéta
Recently the term thrombophilia is becoming a current topic. It is an increased precondition for the creation of tromboses and the following complications as the result of increased blood coagulation which could be very serious or even fatal. A timely diagnosis of thrombophilia mutations helps patients to avoid many critical situations (e.g. in case of operations, pregnancy etc.). In these days there are at least 30 genetic laboratories in the Czech Republic which research thrombophilia mutations. Unfortunately this medical examination is covered by insurance companies just in case of indicated symptoms which are under strict criteria. If someone is interested in a medical examination and a doctor does not indicate him with the symptoms, they are forced to pay the examination on their own. There are a few insurance companies which contribute with some amount for these examinations as a part of their preventive programmes (e.g. Česká průmyslová zdravotní pojišťovna, Zdravotní pojišťovna ministerstva vnitra ČR or Zdravotní pojišťovnu Revírní bratrská pokladna). The aim of my bachelor thesis was a practical mastery RFLP-PCR method, PCR ARMS method and a reverse hybridization on strips to detect the most common mutations of thrombophilia in the population of the Czech Republic and deviloving on the issue. In the theoretical part, I focus on a description of the most important thrombophilic mutations in the Czech population and their risks. I also describe particular genetic methods by which each of thrombophilia mutations is being examined in genetic laboratories. My own results of the examination of four major thrombophilia mutations and polymorphs are shown in the practical part. These are the Leiden mutation, prothrombin mutation, MTHFR 1298 and MTHFR 677 polymorphs. For my examinations I used these genetic methods: RFLP-PCR method, PCR ARMS method, reverse hybridization on strips. I made all these methods in the genetic laboratory Genlabs in České Budějovice. For the examinations I used DNA samples of my family.
|
guest ::
