magistrsko delo
Ivana Jurković Jakopanec (Author), Uroš Petrovič (Reviewer), Jerneja Ambrožič (Mentor), Jerneja Ambrožič (Thesis defence commission member), Alenka Erjavec Škerget (Thesis defence commission member), Uroš Petrovič (Thesis defence commission member), Petra Golja (Thesis defence commission member), Alenka Erjavec Škerget (Co-mentor)

Abstract

V zgodnjem embrionalnem razvoju žensk, se, običajno naključno, inaktivira eden od obeh kromosomov X. Posledično se na tem kromosomu utiša tudi večina genov. V primeru naključne inaktivacije materinega oziroma očetovega kromosoma X je razmerje med aktivnim in inaktivnim kromosomom X enako 1:1. Odstopanje od tega razmerja lahko opredeljujemo kot merilo za nenaključno inaktivacijo kromosoma X. Na kromosomu X je poznanih več genov, ki vplivajo na duševni razvoj pri posamezniku. Mutacije v teh genih so pogosto povezane z duševno manjrazvitostjo. Cilj magistrske naloge je bilo uvajanje in preverjanje metodologije za določevanje vrste inaktivacije kromosoma X, ki temelji na uporabi verižne reakcije s polimerazo v kombinaciji z restriktazami, občutljivimi za metilacijo. Z vpeljano metodologijo smo nato preverjali vzorec inaktivacije kromosoma X (naključna/nenaključna) pri deklicah z motnjami v duševnem razvoju in ga primerjali z vzorcem pri kontrolni skupini deklic iz splošne populacije (zdrave deklice brez motenj v duševnem razvoju). Z izračunom koeficienta inaktivacije kromosoma X in nadaljnje obdelave rezultatov smo dokazali statistično značilno razliko v pojavu nenaključne inaktivacije kromosoma X (p=0,028) med kontrolno skupino in skupino deklic z motnjo v duševnem razvoju. Na podlagi pridobljenih rezultatov smo metodologijo za določitev inaktivacije kromosoma X uspešno vpeljali v rutinski in diagnostični postopek Laboratorija za medicinsko genetiko Univerzitetnega kliničnega centra Maribor.

Keywords

inaktivacija kromosoma X;verižna reakcija s polimerazo;za metilacijo občutljive restriktaze;motnje v duševnem razvoju;

Data

Language: Slovenian
Year of publishing:
Typology: 2.09 - Master's Thesis
Organization: UL BF - Biotechnical Faculty
Publisher: [I. Jurković Jakopanec]
UDC: 575(043.2)
COBISS: 71793923 Link will open in a new window
Views: 273
Downloads: 34
Average score: 0 (0 votes)
Metadata: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Other data

Secondary language: English
Secondary title: X chromosome inactivation in young females with intellectual disabilities
Secondary abstract: During the early embryonic development in women, a process known as X chromosome inactivation occurs, which causes random gene silencing of one of the two X chromosomes. In the case of random inactivation of the mother’s or the father's chromosome X, the ratio of active to inactive chromosome X is 1:1. Deviation from this ratio can be defined as a criterion for the non-random X chromosome inactivation (skewed X-inactivation). Several genes on chromosome X have been shown to have an effect on an individual's mental development, therefore mutations in those genes are often associated with development of mental disorders. The aim of this master's thesis was to introduce and validate a methodology for the X chromosome inactivation based on the use of polymerase chain reaction in combination with methylation-sensitive restrictases. With this method we then tested the pattern of X chromosome inactivation (random/non-random) in girls with intellectual disabilities compared to a control group of girls from the general population (healthy girls without intellectual disabilities). By calculating the coefficient of X chromosome inactivation and further processing the results, we demonstrated a statistically significant difference in occurrence of non-random X chromosome inactivation (p = 0.028) between the control group and the group of girls with intellectual disabilities. The obtained results enabled us a successful implementation of the methodology for determination of the X chromosome inactivation in the routine diagnostic process of the Laboratory of Medical Genetics in the University Medical Centre Maribor.
Secondary keywords: X chromosome inactivation;polymerase chain reaction;methylation sensitive restriction enzymes;intellectual disabilities;
Type (COBISS): Master's thesis/paper
Study programme: 0
Embargo end date (OpenAIRE): 1970-01-01
Thesis comment: Univ. Ljubljana, Biotehniška fak.
Pages: X f., 43, [13] str.
ID: 13048223