prikaz prve stranice dokumenta Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu
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master's thesis
Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu
Zagreb: University of Zagreb, School of Medicine, 2014. urn:nbn:hr:105:234613
Deronjić, Andrea
University of Zagreb
School of Medicine
Department of Medical Chemistry, Biochemistry and Clinical Chemistry

Institutional repository: Dr Med - University of Zagreb School of Medicine Digital Repository

Cite this document

Deronjić, A. (2014). Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu (Master's thesis). Zagreb: University of Zagreb, School of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:234613

Deronjić, Andrea. "Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu." Master's thesis, University of Zagreb, School of Medicine, 2014. https://urn.nsk.hr/urn:nbn:hr:105:234613

Deronjić, Andrea. "Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu." Master's thesis, University of Zagreb, School of Medicine, 2014. https://urn.nsk.hr/urn:nbn:hr:105:234613

Deronjić, A. (2014). 'Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu', Master's thesis, University of Zagreb, School of Medicine, accessed 08 November 2024, https://urn.nsk.hr/urn:nbn:hr:105:234613

Deronjić A. Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu [Master's thesis]. Zagreb: University of Zagreb, School of Medicine; 2014 [cited 2024 November 08] Available at: https://urn.nsk.hr/urn:nbn:hr:105:234613

A. Deronjić, "Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu", Master's thesis, University of Zagreb, School of Medicine, Zagreb, 2014. Available at: https://urn.nsk.hr/urn:nbn:hr:105:234613

Metadata
TitleProbir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu
Title (english)Screening of mutations with capillary electrophoresis in patients with suspected cystic fibrosis
AuthorAndrea Deronjić
MentorJadranka Sertić (mentor)
Committee memberJasna Lovrić (predsjednik povjerenstva)
Committee memberDorian Tješić-Drinković (član povjerenstva)
Committee memberJadranka Sertić (član povjerenstva)
GranterUniversity of Zagreb
School of Medicine
(Department of Medical Chemistry, Biochemistry and Clinical Chemistry)
Zagreb
Defense date and country2014-03-19, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Medical Biochemistry
Abstract
Cistična fibroza (CF) autosomno recesivna je bolest kod koje mutacija CFTR gena dovodi do poremećenog protoka iona klorida u stanicama egzokrinih žlijezda. Karakteristično se stvara gusta sluz koja dovodi do oštećenja tkiva i funkcije organa već u novorođenačkoj dobi. Liječenje je usmjereno na ublažavanje simptoma i sprječavanje komplikacija. Cilj rada bio je utvrditi učestalost najčešćih genotipova u pojedinaca sa sumnjom na cističnu fibrozu čiji su uzorci krvi bili testirani u KBC-u Zagreb u vremenskom periodu od ožujka 2001. do srpnja 2013. godine te na osnovu dobivenih podataka izračunati pojavnost genotipova. Podaci su prikupljeni iz medicinske dokumentacije i analizirani deskriptivnom statistikom. Analizom 982 uzorka kapilarnom elektroforezom na prisutnost mutacija CFTR gena utvrđeno je sveukupno 10 mutacija, a najveća je pojavnost mutacija F508del kod njih 58.94%, N1303K kod njih 1.58% i G542X 1.31%. Prisutnost barem jedne mutacije uočena je u 13.65%, a u homozigotnom ili složenom heterozigotnom obliku u 5.7% osoba sa sumnjom a CF.
Abstract (english)
Cystic fibrosis (CF) is an autosomal recessive disorder which leads to interrupted chloride transportation in exocrine gland cells due to CFTR gene mutation. Viscous mucus is produced that leads to tissue and organ damage. Treatment includes moderation of symptoms and prevention of complications. Aim of this study was to determine frequency of most common genotypes with capillary electrophoresis in individuals with suspicion of CF whose blood samples were tested in UHC Zagreb during period from March of 2001 till July of 2013. Data from medical documentation was retrospectively obtained and analyzed with descriptive statistics. Analysis of982blood samples for the presence of mutations in the CFTR gene revealed a total of 10 mutations and the most common mutations F508del, N1303K, G542X were found in 58.94%, 1.58% and 1.31% of cases respectively. Presence of at least one mutation was found in 13.65%and in homozygous or coumpound heterozygous form in 5.7% of patients with suspicion od CF.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:105:234613
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsAccess restricted to students and staff of home institution
Terms of useLicence In copyright icon
Created on2015-12-15 12:56:34