Analiza sekvenci kromosoma Y u Turnerovom sindromu

master's thesis

• Title (english): Analysis of the Y chromosome sequences in TUrner syndrome
• Author: Nestija Juretić
• Mentor: Petra Korać (mentor)
• Mentor: Feodora Stipoljev (mentor)
• Committee member: Petra Korać (predsjednik povjerenstva)
• Committee member: Goran Kovačević (član povjerenstva)
• Committee member: Ana Galov (član povjerenstva)
• Committee member: Mirta Tkalec (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2018-03-14, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U ovom diplomskom radu učinjena je analiza uzoraka spontano pobačenih plodova kod kojih je citogenetičkom analizom utvrđen Turnerov sindrom (45,X ili 45,X/46,XX) s ciljem utvrđivanja prisutnosti sekvenci Y-kromosoma. Ukupno su analizirana 23 uzorka metodom lančane reakcije polimerazom. Hipoteza rada je bila da su rani prekidi trudnoće kod kariotipa specifičnog za Turnerov sindrom izazvani razvojnim mehanizmima u kojima ulogu imaju sekvence Y-kromosoma prisutne u genomu ploda. Analizirano je 8 sekvenci Y-kromosoma (SRY, PABY, TSPY, HSFY, DDX3Y, AMXY, DYZ1 i DYZ3). Kod 13% plodova s Turnerovim sindromom utvrđena je prisutnost neke od sekvenci Y-kromosoma.

Abstract (english)

In this graduation thesis, analysis of samples of spontaneously aborted fetuses with cytogenetically established Turner syndrome karyotype (45,X or 45,X/46,XX) was made and the aim of the study was to determine the presence of Y chromosome sequences in those samples. A total of 23 test samples were analyzed using polymerase chain reaction. The hypothesis of this study was that early spontaneous termination of the pregnancy with Turner syndrome specific karyotype may have been caused by the mechanisms of development in which the sequences of Y chromosome embeded in the fetus play a sigificant role. Eight sequences for Y chromosome genes were used in the analysis (SRY, PABY, TSPY, HSFY, DDX3Y, AMXY, DYZ1 i DYZ3). In 13% of the fetuses with Turner syndrome, the presence of Y chromosome sequence was determined.

• Keywords: PCR; DNA; posteljica; kultura stanica; plodova voda
• Keywords (english): PCR; DNA; placenta; cell culture; amniotic fluid
• Language: croatian
• URN:NBN: urn:nbn:hr:217:787284
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access; Embargo expiration date: 2020-03-14
• Created on: 2018-05-03 10:43:25