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Človeške dedne bolezni, njihovo izražanje in napovedovanje prihodnosti / Human Hereditary Diseases, their Expression and Prediction

Človeške dedne bolezni, njihovo izražanje in napovedovanje prihodnosti / Human Hereditary Diseases, their Expression and Prediction

This video was recorded at Mednarodni posvet Biološka znanost in družba: GENIalna prihodnost - genetika, determinizem in svoboda / International Conference Bioscience and Society: GENIal future – genetics, determinism and freedom. Genetske nepravilnosti nastanejo zaradi nepravilnosti v genih ali kromosomih. Nekatere med njimi, kot je npr. rak, so posledica poškodb dednine, ki se v življenju zgodijo v določenih celicah našega organizma, sam izraz "genetske bolezni" pa v splošnem raje uporabljamo v primerih bolezni, pri katerih gre za poškodbe genetskega materiala v vseh celicah organizma, kar pomeni, da je poškodba navzoča od spočetja in da smo jo podedovali od staršev. Zato govorimo o dednih boleznih, ki lahko nastopijo naključno, v primerih, ko sta starša prenašalca okvarjenih alelov recesivnega gena, ali pa kot posledica podedovanja dominantnega okvarjenega gena. Večina izmed 4.000 danes poznanih genetskih nepravilnosti je zelo redkih, saj se pojavijo po enkrat na nekaj tisoč ali celo milijonov prebivalcev, vseeno pa so številne, kot so npr. družinska hiperlipidemija ali hiperholesterolemija, cistična fibroza, policistične ledvice in Huntingtonova bolezen, tudi mnogo bolj pogoste, tako da je po približni oceni kar 1–3 % otrok rojenih s prirojeno oz. genetsko pogojeno nepravilnostjo. Če pa k temu prištejemo še vse bolezni, pri katerih gre za kakršno koli vpletenost poškodb genetskega materiala, potem je seveda število ljudi z genetskimi poškodbami mnogo mnogo večje. Medicinska molekularna diagnostika skupaj z genetskim svetovanjem je zato zelo pomembna za napovedovanje, nadzor in omejevanje genetskih bolezni kot tudi pri razvoju strategij za njihovo zdravljenje. Novo področje sodobne medicine je genotipiziranje za ugotavljanje nagnjenosti do kompleksnih bolezni, kar vsekakor odpira številna etična vprašanja in skrb za prihodnji razvoj. A genetic disorder is caused by abnormalities in genes or chromosomes. Some of them, such as cancer, are due to impairments of genetic material acquired in a few cells during life. However, the term "genetic disease" most commonly refers to diseases present in all cells of the body and present since conception, which means that defective genes are inherited from the parents. In this case, the genetic disorder is known as a hereditary disease. This can happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Most of the 4,000 genetic disorders as known at present, are quite rare and affect one person in every several thousands or millions. However, a number of them, such as familial hyperlipidaemia or hypercholesterolaemia, cystic fibrosis, polycystic kidney disease and Huntington's disease are common enough to raise estimation that 2–3% of births result in babies with either congenital or geneticallydetermined abnormalities. The number of genetically affected people is even much higher if we include all conditions in which genetic material plays some role. For these reasons medical molecular diagnosis together with genetic counseling plays important role in prediction, elimination and/or in developing strategies for treatment of genetic disorders. Genotyping predispositions for genetically based conditions is a new field of the current medicine which opens ethical questions and concerns for future development.

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