Title Mikrodelecije Y kromosoma u neplodnih muškaraca
Title (english) Y chromosome microdeletions in infertile men
Author Lucija Mustač
Mentor Anđelka Radojčić Badovinac (mentor)
Mentor Sanja Dević Pavlić (komentor)
Committee member Elitza Markova Car (predsjednik povjerenstva)
Committee member Sergej Nadalin (član povjerenstva)
Committee member Anđelka Radojčić Badovinac (član povjerenstva)
Committee member Sanja Dević Pavlić (član povjerenstva)
Granter University of Rijeka (Faculty of Biotechnology and Drug Development) Rijeka
Defense date and country 2019, Croatia
Scientific / art field, discipline and subdiscipline BIOTECHNICAL SCIENCES Biotechnology Biology
Abstract Y kromosom svojom strukturom i genima koje sadržava, s naglaskom na gene iz područja AZF (faktora azoospermije) regije, ima ključnu ulogu u kontroli i provođenju normalnog procesa spermatogeneze. U slučaju delecija u navedenoj regiji dolazi do poremećaja u procesu spermatogeneze. Najteži poremećaj koji iz toga proizlazi je neplodnost muškarca. Ona se javlja u najviše zabilježenih slučajeva, iako postoje mnogi uzroci tog poremećaja. Također, postoje značajne varijacije u prikazu učestalosti mikrodelecija, kako u svjetskoj tako i u pojedinim populacijama. Razlog tome je različita veličina ispitivane populacije te razlike u genetičkoj pozadini i okolišnim faktorima kojima su bili izloženi pojedini sudionici istraživanja. Nakon utvrđivanja mikrodelecija u muškaraca, provode se dodatni testovi kako bi se utvrdilo može li se par usmjeriti na neku od mogućih metoda potpomognute oplodnje. Najčešće metode korištene pri liječenju takvih parova su ICSI (engl. intracytoplasmic sperm injection) te IVF (engl. in vitro fertilization). Kod tih metoda dolazi do direktnog uvođenja spermija u jajnu stanicu ili puštanja spermija da u in vitro okolišu sam prodre u jajnu stanicu i oplodi ju. Obje metode imaju velike prednosti jer omogućuju oplodnju i začetak trudnoće kod parova koji prije nisu imali tu priliku. Međutim, metode imaju i značajne nedostatke, koje uključuju 100% prijenos mikrodelecija s oca na sina. Zbog tih razloga, ovaj rad objedinjuje brojna istraživanja mikrodelecija Y kromosoma s ciljem poticanja promišljanja o poboljšavanju metoda medicinski pomognute oplodnje te potencijalnog ukazivanja na neke specifičnosti koje se u pojedinačnim radovima ne bi uvidjele.
Abstract (english) The Y chromosome plays a key role in controlling and conducting the normal process of spermatogenesis with its structure and the genes it contains, expecialy with the genes of the AZF (azoospermia factor) region. If the deletions appear in the mentioned region they lead to disorders in the process of spermatogenesis. The most severe disorder, resulting from this,
is the infertility of a man. Microdeletions are the most common cause of male infertility, althought there are many causes of this disorder. There are also significant variations in the frequency of microdeletions, both in the world and in specific populations. The reason for this is the different size of the examined population, the difference in the genetic background and the environmental factors that were exposed to each participant in the research. After determining microdeletions in males, additional tests are carried out to determine whether a couple can be directed to some of the possible assisted fertilization methods. The most commonly used methods in treating this type of couples are ICSI (intracytoplasmic sperm injection) and IVF (in vitro fertilization). In these methods direct injection of sperm into the oocite or the penetration of sperm into the oocite in the in vitro environment is preformed. Both methods have great advantages because they allow fertilization and the induction of pregnancy in couples who did not have the chance before to concive a child. However, the methods also have significant disadvantages, which include 100% microdeletion transfer from the father to the son. For these reasons, this paper combines numerous studies of the Y chromosome microdeletions with the goal of encouraging thoughts on improving the assisted fertilization methods and potentially pointing to some specificities that would not be seen in the individual papers.
Keywords
mikrodelecije
Y kromosom
AZF područje
neplodnost
metode medicinski pomognute oplodnje
Keywords (english)
microdeletions
Y chromosome
AZF area
infertility
assisted reproductive technology
Language croatian
URN:NBN urn:nbn:hr:193:255482
Study programme Title: Biotechnology and drug research Study programme type: university Study level: undergraduate Academic / professional title: sveučilišni/a prvostupnik/prvostupnica biotehnologije i istraživanja lijekova (sveučilišni/a prvostupnik/prvostupnica biotehnologije i istraživanja lijekova)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Repository Repository of the University of Rijeka, Faculty of Biotechnology and Drug Development
Created on 2019-07-26 20:06:47