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Lactose intolerance and genetic testing
VYHLÍDALOVÁ, Nikola
Lactose intolerance tends to be one of the most frequent health conditions related to the intake of milk. The essential cause of this malabsorption is the inadequate production of the lactase enzyme by the small intestine, which leads to the inability to break down the disaccharide contained in milk lactose. The inadequate production of lactase may be conditioned genetically. Two single nukleotide polymorphisms were found in the European population that are responsible for the retention of lactase aktivity through adulthood. The aim of the thesis was to use the methods of molecular biology to assess and compare the two polymorphisms. Specifically, the two methods were reverse hybridization on strips and PCR-RFLP method. The thoretical part characterizes lactose intolerance, which includes the description of basic pathophysiology, the types of hypolactasia, the mechanisms of and hypotheses related to acquiring lactose intolerance. The empirical part presents the results of the study. The studied population consisted of 20 samples obtained from volunteers with suspected lactose intolerance. The CC/GG genotype, which is connected to lactose intolerance, was found in 39 % of the population. The TT/AA genotype, connected to lactose tolerance, was found in 28 % of the samples. The heterozygote genotype CT/AG was identified in 22 % and other variants were found in the remaining 11 % of the population. Both methods are appropriate for the assessment of lactose intolerance. Although the method of reverse hybridization is not commonly used for the diagnosis of hypolactasia, it proved to be more reliable. The results obtained by this technique were more consistent than results arrived at by the commonly used PCR-RFLP method.
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The possibilities of genetic testing for mutation and polymorphisms in connection with cardiovascular diseases.
ČALOUNOVÁ, Lucie
Cardiovascular diseases (CVD) belong to the most current issues nowadays and they are the most frequent death reasons in the developed countries. Atherosclerosis and thrombosis, which might be genetically determined rank among the main causes of the inception. Knowledge of genetic predispositions might be helpful for patients to minimize the risk of CVD. Other prevention such as healthy lifestyle and restriction or better to say complete elimination of high risk factors, e.g. smoking is very important though. The goal of this bachelor work is practical mastery of reverse hybridization on strips to detect the mutations and polymorphisms, which are related to cardiovascular diseases and prepare the research into this issue. In the theoretical part, I apply with a description of mutations and polymorphisms closely related to cardiovascular diseases, which might be identified with the help of kit CVD Strip Assay within one experiment. Afterwards I pay attention to the description of alternative analytic methods recognizing above mentioned selective mutations and polymorphisms. I deal with my own results obtained in the genetic laboratory GENLABS ltd. These are the FV Leiden, FV R2 haplotype, prothrombin, FXIII, -fibrinogen, PAI-1, HPA-1, MTHFR 677, MTHFR 1298, ACE, Apo B, Apo E. I used the method of reverse hybridization on strips to identify the mutations and polymorphs. The patients' samples from the GENLABS laboratory were used to this research.
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