Probir mutacija kapilarnom elektroforezom u pacijenata sa sumnjom na cističnu fibrozu

master's thesis

• Title (english): Screening of mutations with capillary electrophoresis in patients with suspected cystic fibrosis
• Author: Andrea Deronjić
• Mentor: Jadranka Sertić (mentor)
• Committee member: Jasna Lovrić (predsjednik povjerenstva)
• Committee member: Dorian Tješić-Drinković (član povjerenstva)
• Committee member: Jadranka Sertić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Medical Chemistry, Biochemistry and Clinical Chemistry); Zagreb
• Defense date and country: 2014-03-19, 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: cistična fibroza; mutacije CFTR gena; kapilarna elektroforeza; F508del; N1303K; G542X
• Keywords (english): cystic fibrosis; CFTR gene mutations; capillary electrophoresis; F508del; N1303K; G542X
• Language: croatian
• URN:NBN: urn:nbn:hr:105:234613
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2015-12-15 12:56:34