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  • Opredelitev sprememb v številu kopij gena za stereocilin (STRC) pri bolnikih z izgubo sluha = Stereocilin (STRC) gene copy number variations in patients with hearing loss : magistrska naloga : magistrski študijski program Laboratorijska biomedicina
    Damjanović, Diana
    The most common cause of sensorineural hearing loss is hereditary in nature, thus genetic testing of patients with hearing loss is crucial to genetically clarify the disease. In the population of ... patients with hearing loss, the genetic causes associated with variants in the GJB2 and GJB6 genes are well researched. Nevertheless, with the development of new generation sequencing (NGS) also other genes associated with hearing loss are being numerously analyzed. However, this does not apply to genetic variants in the STRC gene, eventhouhg they represent a significant proportion of the non-syndromic hearing loss causes. Namely, STRC analysis is difficult when using Sanger or next generation sequencing. This is partly because of the pseudogene STRCP1, which is highly homologous, and partly because sequencing makes it difficult to determine the presence of copy number variants. The aim of this master's thesis is to identify changes in the copy number variations of the STRC gene in the population of patients with hearing loss with not definitively determined genetic cause of the disease by establishing a step-by-step analytical approach. The study included 174 patients with different degree of hearing loss and of different ages. All of them had previously sequenced GJB2 and GJB6 genes by Sanger sequencing, and had already sequenced clinical exons by next generation sequencing. Determination of the copy number variations was performed step-by-step, by introducing the quantitative fluorescent polymerase chain reaction (QF-PCR), which was performed as a screening approach. The results were then confirmed by multiplex ligation-dependent probe amplification (MLPA). Copy number variations in the STRC gene were identified in 7 subjects, representing 4% of all subjects included in the master's thesis. However, we identified the STRC deletion as a cause of hearing loss only in 2 subjects which were homozygous for the deletion, therefore only in 1.15% of our study group. The other 5 subjects were heterozygous carriers, of which 1 was a heterozygous carrier of the STRC duplication and 4 were heterozygous carriers of the STRC deletion. The frequency of the copy number variants of the STRC gene in the analysed group of patients is thus lower than expected. In order to definitively determine the significance of the STRC gene for hearing loss in these patients, it would be necessary to perform an analysis of substitution and small indels in the STRC gene.
    Vrsta gradiva - magistrsko delo ; neleposlovje za odrasle
    Založništvo in izdelava - Ljubljana : [D. Damjanović], 2021
    Jezik - slovenski
    COBISS.SI-ID - 78438147

Knjižnica Signatura – lokacija, inventarna št. ... Status izvoda
Fakulteta za farmacijo, Ljubljana Knjižnica
mlab 616 DAMJANOVIĆ DIANA Opredelitev 276
IN: 0017083 		prosto - za čitalnico
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