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Molecular genetic diagnosis of cystic fibrosis
Matějčková, Iva ; Krkavcová, Miroslava (advisor) ; Kotlas, Jaroslav (referee)
Cystic fibrosis is a very common and serious disease. It is an autosomal recessive disease with an incidence of 1 : 2500 - 1 : 4500. With this disease, CTFR gene mutations occur which are responsible for the failure of chloride channels. It is a multi-organ handicap, which primarily infects the respiratory and gastrointestinal system, but also affects the hepatobiliary system, reproductive system, and sweat glands. Cystic fibrosis can be diagnosed by a sweat test, molecular genetic diagnosis, or more rarely, using transepitel potential differences, which has not been introduced in the Czech Republic yet. Since 2009, the Czech Republic applies neonatal screening CF, which helps make a faster diagnosis to then be able to proceed to the rapid introduction of appropriate treatment. The introduction of an early treatment has significantly improved the prognosis of the patient. Currently CF patients can live on average from thirty to forty years. For the CFTR gene genetic testing is used postnatal, prenatal or preimplantation material. From these samples, DNA gets isolated and is further investigated using genetic methods, which may be based on the principle of PCR, reverse hybridization, restriction analysis, DNA sequencing or MLPA. Powered by TCPDF (www.tcpdf.org)
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