Predimplantacijska genetička dijagnostika i njena primjena u IVF klinikama

undergraduate thesis

• Title (english): Preimplantation genetic diagnosis and its usage in IVF clinics
• Author: Matej Anđelić
• Mentor: Vesna Benković (mentor)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2018-07-17, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Predimplantacijska genetička dijagnostika (engl. preimplantation genetic diagnosis- PGD), razvijena krajem prošlog stoljeća, postupak je analize jedne ili više stanica embrija prije implantacije u ženinu maternicu. Usko je vezana uz oplodnju jajne stanice u uvjetima in vitro, bilo klasičnom oplodnjom in vitro (engl. in vitro fertilization- IVF) ili intracitoplazmatskim injektiranjem spermija (engl. intracytoplasmic sperm injection- ICSI). Izvori uzoraka za biopsiju najčešće su polarno tjelešce, stanice blastociste trećeg dana te biopsija trofektoderma blastociste. Tehnike kojima se analizira uzorak su komparativna genetička hibridizacija na matrici (engl. array comparative genomic hybridization array – aCHG), fluorescentna hibridizacija in situ (engl. fluorescent in situ hybridization- FISH) te kvantitativna lančana reakcije polimeraze ( engl. quantitative polymerase chain reaction – qPCR). Prednost dijagnostike PGD je otkrivanje širokog spektra poremećaja, rezultata monogenskih poremećaja, no jednako tome i poremećaja na razini kromosoma bez utjecaja na razvojni potencijal embrija. Također, uz predimplantacijsku genetičku dijagnostiku, uvijek se postavlja pitanje bioetike. Glavna problematika koja se vodi kome se treba ponuditi pravo na PGD? Najčešće se nudi samo osobama ozbiljnog zdravstvenog stanja i osobama u rizičnoj skupini. Problem samim time što oba kriterija se mogu shvatiti subjektivno, tj. kada povući crtu da je osoba teško bolesna ili primjerice u rizičnoj skupini ljudi.

Abstract (english)

Preimplantation genetic diagnosis involves the testing of a single or a few cells biopsied from oocytes or embryos generated in vitro. As only embryos unaffected for a given genetic condition are transferred to the uterus, prenatal diagnosis and the termination of a pregnancy are avoided. For the past two decades these biopsies have been performed at three stages, the polar body, blastomere on day three, and trophectoderm of blastocyst. Depending on the type of genetic disorder, PGD utilises different methods of genetic testing. These include fluorescence in situ hybridisation (FISH), Polymerase chain reaction (PCR) and Array Comparative Genomic Hybridisation (aCGH). PGD is used to test the genetic makeup of embryos to detect single gene disorders and chromosomal abnormalities. One of the ethical problem is to whom these tests should be offered. Usually, they are limited to severe illnesses and to persons in specific ‘high risk’ groups. But both these criteria are pretty subjective, and cannot be strictly established.

• Keywords: PGD; predimplantacijska genetička dijagnostika
• Language: croatian
• URN:NBN: urn:nbn:hr:217:906095
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: undergraduate; Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2018-08-29 09:53:03