Home > Search Results: keywords:"polymorfismus C/T 13910 a G/A 22018"
Search:
Search Tips :: Advanced Search
Search collections:
Sort by: Display results: Output format:
National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Molecular detection of selected gene polymorphisms related to nutrition (nutrichip validation)
 TURKOVÁ, Kateřina
Lactose intolerance is the most common food intolerance in the world. Individuals with lactose intolerance are unable to produce the enzyme lactase in the small intestine, which makes it possible to break down the lactose contained in dairy products. Insufficient lactase production may be genetically determined. Two single nucleotide polymorphisms responsible for the persistence of lactase activity in adulthood have been found in the European population. Celiac disease is one of the autoimmune diseases that mainly affects the mucous membrane of the small intestine. The disease is characterized by intolerance to gliadin, which is part of gluten. Intolerance leads to chronic inflammation of the small intestinal mucosa, leading to chronic diarrhea, fatty stools, vomiting and fatigue. The development of celiac disease is conditioned by the presence of a genetic predisposition. Genetic predisposition is linked to HLA system alleles. Specifically, these are the HLA-DQ2 and HLA-DQ8 haplotypes.
Detailed record
Validation of PCR-RFLP method for determination of lactose intolerance
 PROSOVÁ, Denisa
The lactose intolerance is the most common food intolerance occurring worldwide. Individuals having the lactose intolerance cannot produce the laktase enzyme in thein small intestine. This enzyme is able to digest the lactose contained in milk. There are several wals for this disabilitty. The practical part of this bachaleor thesis is focused on the genetic origin of the lactose intolerance. In the population of Europe we can find as the most frequent the two polymorphism of the MCM6 gene that affect the production of laktase C/T13910 and G/A22018. In principle it concerns the new gene station which ensure the production of laktase enzyme even in adult age. The aim of this bachaleor thesis is to creat the research based on the recent knowledge Publisher in the specialized literature. There are gin to be describe all type sof the lactose intolerance and the ways of its diagnostics, futhermore e.g. the princupli of Alleny, the used laboratoř methods, the rule sof validation methods etc.. The pros and cons of every testing approach will be explained. The practical part is aiming at the implementation of the validation of the genetics test used for petting down the lactose intolerance and creating the validation protokol that will serve as a base of my bachaleor thesis. The genetic Cheb-up is based on the PCR-RFLP principle, within the metodology the laboratoř procedures being used in the genetic lab will be described. The validaton will flow into a detection if the applied method is sufficiently valid fot the diagnostics. The genetic analysis will focus on the two selected polymorphism C/T13910 and G/A22018. The sample with a familiar genotype that has already been verifie by sekvenation will be used for validation.
Detailed record

Interested in being notified about new results for this query?
Subscribe to the RSS feed.
Digital Repository :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.2
Maintained by admin.invenio@techlib.cz
This site is also available in the following languages:
Česky  English