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undergraduate thesis
Fragilni kromosom X
2024. urn:nbn:hr:166:053467
Vekić, Larisa
University of Split
Faculty of Science

Cite this document

Vekić, L. (2024). Fragilni kromosom X (Undergraduate thesis). Split: University of Split, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:166:053467

Vekić, Larisa. "Fragilni kromosom X." Undergraduate thesis, University of Split, Faculty of Science, 2024. https://urn.nsk.hr/urn:nbn:hr:166:053467

Vekić, Larisa. "Fragilni kromosom X." Undergraduate thesis, University of Split, Faculty of Science, 2024. https://urn.nsk.hr/urn:nbn:hr:166:053467

Vekić, L. (2024). 'Fragilni kromosom X', Undergraduate thesis, University of Split, Faculty of Science, accessed 23 December 2024, https://urn.nsk.hr/urn:nbn:hr:166:053467

Vekić L. Fragilni kromosom X [Undergraduate thesis]. Split: University of Split, Faculty of Science; 2024 [cited 2024 December 23] Available at: https://urn.nsk.hr/urn:nbn:hr:166:053467

L. Vekić, "Fragilni kromosom X", Undergraduate thesis, University of Split, Faculty of Science, Split, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:166:053467

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Metadata
TitleFragilni kromosom X
Title (english)Fragile X chromosome
AuthorLarisa Vekić
MentorJasna Puizina (mentor)
Committee memberJasna Puizina (predsjednik povjerenstva)
Committee memberAna Maravić (član povjerenstva)
Committee memberIvica Šamanić (član povjerenstva)
GranterUniversity of Split
Faculty of Science
Split
Defense date and country2024-09-24, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Fragilni kromosom X je dominantno svojstvo i jedan od glavnih uzroka mentalne retardacije u muškaraca. Uzrok navedenog poremećaja je nedostatak ili mutacija gena FMR1. Normalni gen FMR1 u svojoj 5’-netranslacijskoj regiji sadrži 6-50 kopija tripleta CGG, a mutirani gen 200-4000 kopija CGG tripleta. Veliki broj metiliranih tripleta CGG utišava transkripciju gena FMR1 i dovodi do nemogućnosti stvaranja proteina Fmr1. Kod žena simptomi najčešće nisu izraženi, a kod muškaraca se uočavaju brojna obilježja fenotipa: izduženo lice s naglašenim ušima, hipotonija mišića, uvećani testisi i mentalna retardacija. Lijek za fragilni kromosom X nije otkriven, ali postoje brojne terapije i tretmani koji mogu ublažiti simptome i olakšati život pojedinaca.
Abstract (english)
Fragile X chromosome is X-linked dominant disorder and is one of the main causes of mental retardation in boys. The cause of this disorder is a deficiency or mutation in the FMR1 gene. The normal FMR1 gene contains 6-50 copies of CGG triplets in its 5’-untraslated region, while the mutated gene contains 200-4000 copies of CGG triplets. A high amount of methylated CGG triplets silences FMR1 gene transcription and leads to the inability to produce the Fmr1 protein. Symptoms are not expressed in girls, while in boys, numerous characteristics of phenotype are observed: elongated face with prominent ears, muscle hypotonia, enlarged testicles and mental retardation. Cure for fragile X syndrome is not discovered, but there are numerous therapies and treatments that can alleviate symptoms and make life easier for individuals.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:166:053467
Study programmeTitle: Biology
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-10-15 08:27:06