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Significance of detection of the ApoE gene and MTHFR gene polymorphisms for osteoporosis.
ŠILHOVÁ, Markéta
Osteoporosis is the sceletal metabolic disease characterized by changes of bone tissue and disfunction of mechanic bone resistance which can lead to numerous bone fractures. Osteoporosis is frequently diagnosed in patients older than 60 years, also advanced age patients are not an exception for this disease. The most frequently affected group of patients is postmenopausal women. Prevalence of osteoporosis still rises. Nowadays more than 200 millions of people suffer from osteoporosis and one million of patients from Czech republic. Osteoporosis have became a serious complication affecting not only medical but also an economic field. Based on these findings, osteoporosis should be considered as an important topic even from the perspective of genetic risk factors. The aim of my bachelor thesis is to write a specialized research focused on introduced topic, summarize accessible information about osteoporosis, including diagnosis and genetic predisposition. I have focused especially on genes ApoE and MTHFR677. ApoE plays an important role in sceletal homeostasis. The highest risk for osteoporosis development is the presence of alel 4 gene for alipoprotein E. Gen MTHFR677 is mostly associated with bone mineral density located in femoral neck. An experimental part of bachelor thesis was based on laboratory practice in molecular biology field inluding isolation of DNA from peripheral blood, PCR technique, detection of PCR products by gel agarose electrophoresis, analysis of ApoE gel by MyTaq Red DNA Polymerase kit and 2x PCRBIO HS Taq Mix, analysis of MTHFR677 gene by MyTaq Red DNA Polymerase kit. Analysis of ApoE gene is based on ARMS PCR method, on the other hand analysis of MTHFR677 is based on RFLP PCR method. I have performed the laboratory practice within the Laboratory of genetics GENLABS in České Budějovice.
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