| | SLO | ENG | Piškotki in zasebnost

Večja pisava | Manjša pisava

Iskanje po katalogu digitalne knjižnice Pomoč

Iskalni niz: išči po
išči po
išči po
išči po
* po starem in bolonjskem študiju


1 - 10 / 10
Na začetekNa prejšnjo stran1Na naslednjo stranNa konec
Detection of aneuploidy using multiplex ligation-dependent probe amplification in fetal tissues from aborted pregnancies
Boris Zagradišnik, Špela Stangler Herodež, Alenka Erjavec Škerget, Andreja Zagorac, Nadja Kokalj-Vokač, 2011, izvirni znanstveni članek

Opis: Purpose: About 10-15% of all pregnancies terminate as spontaneous miscarriages. In the first trimester, 50% of spontaneous miscarriages are the result of chromosomal aberrations, mostly chromosomal aneuploidies. Cytogenetic analyses are used to confirm aneuploidy in failed pregnancies. Culture failure or poor quality chromosomes are often problems in those cases. In such situations, methods that are independent of tissue culture areused, and we employed multiplex ligation-dependent probe amplification (MLPA). We determined if MLPA is an appropriate and compatible method compared with classical cytogenetic analyses on fetal tissues. Methods: All fetal samples received from spontaneous abortions were cultured, karyotyped (if possible) and genomic DNA extracted. MLPA analyses were undertaken using subtelomeric probe kits. Additionally, comparative genomic hybridization (CGH) was used to confirm aneuploidy detected by MLPA in cases of failed culture growth. Results: MLPA analyses confirmed an unbalanced chromosome abnormality identified by cytogenetic analyses in all cases in which tissue culture was successful, and provided data in cases of failed culture growth. Several common numeric chromosome aberrations were detected, as well as rare trisomies and other unbalanced chromosome rearrangements. Conclusions: MLPA analyses can provide information about the karyotype of a DNA sample if cytogenetic analyses are not possible because of a lack of viable cells or if only a small amount of genomic DNA is available. These data indicate that MLPA may also be a very useful method for early prenatal aneuploidy screening.
Ključne besede: pomnoževanje od ligacije odvisnih prob, številčne kromosomske preureditve, kariotip
Objavljeno v DKUM: 12.04.2024; Ogledov: 113; Prenosov: 2
.pdf Celotno besedilo (353,36 KB)
Gradivo ima več datotek! Več...
Gradivo je zbirka in zajema 1 gradivo!

Detection of vkorc1 polymorphism : comparison of polymerase chain reaction/restriction fragment length polymorphism (pcr + rflp) with allele-specific polymerase chain reaction
Špela Stangler Herodež, Nastja Stankovič, Boris Zagradišnik, Alenka Erjavec Škerget, Nadja Kokalj-Vokač, 2013, izvirni znanstveni članek

Opis: Purpose: The VKORC1 polymorphism is an important genetic factor affecting warfarin dose requirement. Patients require different warfarin doses in order to achieve the target therapeutic anticoagulation. The aim of our study was to determine the frequency of single nucleotide polymorphisms (SNP) in the VKORC1gene in the general population, using a simple, rapid, and economical method. Methods: For genotyping, the restriction fragment length polymorphism (RFLP) of polymerase chain reaction (PCR) amplified DNA was used and compared to allele specific polymerase chain reaction. We genotyped 441 DNA samples obtained from the healthy general population in North Eastern Slovenia. Genotypes for the tested group were evaluated to determine whether the population followed the Hardy Weinberg equilibrium. The genotypes and allele frequencies were calculated. Results: The results obtained using the allele specific polymerase chain reaction were consistent with those obtained using the PCR + RFLP method. The G allele frequency (0.62) was higher than the A allele frequency (0.38) in the general population from North Eastern Slovenia. Conclusions: The PCR+RFLP method involved additional manipulation of the PCR products at the expense of analysis time, consumption of reagents and equipment. The allele specific polymerase chain reaction was a simple and rapid method for the detection of SNP in theVKORC1 gene, and is available in any laboratory with the minimum of equipment and reagents required.
Ključne besede: VKORC1, varfarin, PCR, RFLP, alelno specifična verižna reakcija s polimerazo
Objavljeno v DKUM: 12.04.2024; Ogledov: 69; Prenosov: 2
.pdf Celotno besedilo (468,47 KB)
Gradivo ima več datotek! Več...
Gradivo je zbirka in zajema 1 gradivo!

Genotipizacija spinalne mišične atrofije (SMA) z metodo hkratnega pomnoževanja od ligacije odvisnih sond (MLPA)
Klara Šibila, Leja Šinkovec, 2021, končno poročilo o rezultatih raziskav

Ključne besede: SMA, MLPA, spinalna mišična atrofija, mutacije, delecija
Objavljeno v DKUM: 07.02.2022; Ogledov: 739; Prenosov: 24
.pdf Celotno besedilo (684,04 KB)

An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomas
Nadja Kokalj-Vokač, Bogdan Čizmarevič, Andreja Zagorac, Boris Zagradišnik, Boštjan Lanišnik, izvirni znanstveni članek

Opis: Background: Oral and oropharyngeal squamous cell carcinomas (OSCC) are among the most common cancers. The poor survival rate among oral cancer patients can be attributed to several factors, one of them being lack of early detection. A key approach to this problem would be to detect potentially malignant lesion at their early stage. Using the FISH technique, oral brush cytology slides can be an easy and rapid screening approach for malignant cell detection. The present study was designed to detect hTERC and SOX2 amplifications in OSSC exfoliative tumor cells and evaluate whether those two gene amplifications might serve as a supportive biomarker in early detection and diagnosis of oral and oropharyngeal SCC. Results: Brush biopsies were collected from exophytic and exulcerated oral and oropharyngeal lesions of the oral cavity of 71 patients and 22 healthy controls. FISH techniques using a TERC-specific DNA probe and a SOX2 DNA specific probe both combined with a centromere 3-specific control probe was performed on the cytology slides. A 100 squamous epithelial cell nuclei of the smears per slide were analysed. As abnormal FISH pattern were considered amplified and polyploid patterns. From 71 brush biopsies of oropharynx and other locations in oral cavity analysed by FISH 49 were considered to be abnormal (69%). The over representation of polyploidy and/or TERC/SOX2 amplification in tumour samples was statistically significant when compared to controls (p = 0.01). Conclusion: SOX2 and TERC gene amplifications are common in all squamous cell carcinomas and their detection in early stages could be crucial for early detection and more accurate prognosis. Our study strongly suggests that early detection by FISH on cytobrushed samples could be a possible non-invasive screening method even before a tissue biopsy is performed.
Ključne besede: SOX and hTERC gene amplifications, brush biopsy, Oral, oropharyngeal squamous cell carcinoma
Objavljeno v DKUM: 29.06.2017; Ogledov: 1307; Prenosov: 385
.pdf Celotno besedilo (1,28 MB)
Gradivo ima več datotek! Več...

MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions
Špela Stangler Herodež, Boris Zagradišnik, Alenka Erjavec Škerget, Andreja Zagorac, Iztok Takač, Veljko Vlaisavljević, Lidija Lokar, Nadja Kokalj-Vokač, 2013, izvirni znanstveni članek

Opis: The objective of this study was to analyze the methylenetetrahydrofolate reductases (MTHFRs) C677T and A1298C genotype distributions in couples with unexplained fertility problems (UFP) and healthy controls, and to analyze the genotype and haplotype distribution in spontaneously aborted embryonic tissues (SAET) using allele specific polymerase chain reaction (PCR) in 200 probands with UFP, 353 samples of SAET and 222 healthy controls. The analysis revealed a significant overall representation of the 677T allele in male probands from couples with UFP (p = 0.036). The combined genotype distribution for both MTHFR polymorphisms was also significantly altered (χ2 21.73, p <0.001) although female probands made no contribution (c2 1.33, p = 0.72). The overall representation of the 677T allele was more pronounced in SAET (0.5 vs. 0.351 in controls, p <0.001) regardless of the karyotype status (aneuploidy vs. normal karyotype). In addition, the frequencies of the CA and CC haplotypes were significantly lower than in the control group (p = 0.021 and p = 0.001, respectively), whereas the frequency of the TC haplotype was significantly higher than in controls (p <0.0001). The presented findings indicate that only male probands contribute to the association of MTHFR mutations with fertility problems in grown adults and demonstrate a high prevalence of mutated MTHFR genotypes in SAET.
Ključne besede: methylenetetrahydrofolate reductase (MTHFR), genotype, haplotype, infertility, miscarriage
Objavljeno v DKUM: 30.03.2017; Ogledov: 1382; Prenosov: 301
.pdf Celotno besedilo (266,46 KB)
Gradivo ima več datotek! Več...

Detection of mutations in the CYP21A2 gene : genotype-phenotype correlation in Slovenian couples with conceiving problems
Špela Stangler Herodež, Lusien Fijavž, Boris Zagradišnik, Nadja Kokalj-Vokač, 2015, izvirni znanstveni članek

Opis: The objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in the CYP21A2 gene and various clinical and laboratory parameters. Allele-specific polymerase chain reaction (PCR) was used in 638 probands with UFP and 200 HCs. Statistic analysis with χ2 was used to study the association of mutations with infertility. The effect of mutations on particular clinical and laboratory parameters was assessed with the analysis of variance (ANOVA) test. With regard to the CYP21A2 gene, 0.6% of probands with UFP and 0.5% of HCs were positive for the c.290-13A/C>G mutation; 0.6% of probands with UFP and 1.5% of HCs were positive for the p.I172N mutation; there were no probands with UFP positive for the p.P30L mutation, whereas 0.5% of HCs were; and 0.2% of probands with UFP and 0.5% of HCs were found to have the p.V281L mutation. We found a significant association between c.290-13A/C>G mutation and the frequency of significant hormone deviations (χ2 = 6.997, p = 0.008). Similar association was also observed between the c.29013A/C>G mutation and the frequency of polycystic ovary syndrome (PCOS) (χ2 = 16.775, p = 0.000). Our findings indicate that no significant difference in the prevalence of CYP 21A2 mutations can be found in probands with UFP when compared with HCs without infertility history. The results also imply the significant association of the c.290-13A/ C>G mutation in the CYP21A2 gene, not only with the frequency of PCOS, but also with the frequency of significant hormone deviations.
Ključne besede: CYP21A2 gene, genetics, infertility, mutations, unexplained infertility problems (UFP), healthy controls (HCs)
Objavljeno v DKUM: 30.03.2017; Ogledov: 1273; Prenosov: 168
.pdf Celotno besedilo (249,68 KB)
Gradivo ima več datotek! Več...

Genetski dejavniki in rak prostate (vpliv polimorfizmov C825T v genu GNB3 in D85Y v genu UGT2B15)
Tine Hajdinjak, Boris Zagradišnik, Nadja Kokalj-Vokač, Karel Kisner, 2004, izvirni znanstveni članek

Opis: Izhodišča. V Sloveniji odkrijemo približno polovico manj raka prostate (CaP) kot v Avstriji. S staranjem prebivalstva in zlasti širjenjem osveščenosti se incidenca veča. Načini zdravljenja lahko močno poslabšajo kakovost življenja. Poteka bolezni ni moč natančno napovedati. Glavni dejavnik tveganja za CaP je dednost, zato je eden od načinov iskanja novih napovednih dejavnikov analiza polimorfizmov posameznih nukleotidov (SNP). Metode. DNK smo osamili iz periferne krvi 86 bolnikov s histološko verificiranim rakom prostate in 178 kontrol. Polimorfizma D85Y v genu UGT2B15 in C825T v genu GNB3 smo določali z metodo RFLP. Frekvence posameznih alelov smo primerjali med bolniki in zdravimi ter znotraj skupine bolnih glede na oceno po Gleasonu (pod 7 in 7 ali več). Rezultati. D85Y: bolniki: 23% DD, 49% DY, kontrolie: 16% DD, 52% DY (nz). Med bolniki z oceno po Gleasonu 7 ali več je bil delež DD 33%, pod 7 pa 14% (tveganje za DD 2,97, p = 0,041). C825T: bolniki: 14% TT, 44% CT, kontrole 8% TT, 46% CT(nz). Zaključki. Vpliva preučevanih polimorfizmov na tveganje za nastanek CaP nismo potrdili, ugotovili pa smo značilno večji delež alela D polimorfizma D85Y znotraj podskupine bolnikov s slabše diferenciranim rakom. Ta bi lahko postal eden od napovednih dejavnikov pri odkrivanju in zdravljenju CaP.
Objavljeno v DKUM: 21.12.2015; Ogledov: 2201; Prenosov: 50
URL Povezava na celotno besedilo

Subtelomerne kromosomske preureditve - eden od vzrokov za idiopatsko mentalno retardacijo
Alenka Erjavec Škerget, Boris Zagradišnik, Nadja Kokalj-Vokač, 2003, strokovni članek

Opis: Izhodišča. Kromosomske napake so lahko eden od vzrokov za idiopatsko mentalno retardacijo (IMR) in dismorfologijo. V prispevku poročamo o vpeljavi simultane metode fluorescenčne hibridizacije "in situ" (FISH) za odkrivanje subtelomernih kromosomskih preureditev. Ugotavljamo, da je metoda lahko uporabna za rutinsko citogenetsko diagnostiko IMR, kongenitalnih anomalij in razreševanje kompleksnejših kariotipov. Pilotsko študijo smo izvedli pri 56 bolnikih, otrocih iz severovzhodne Slovenije, ki so bili napoteni v citogenetski laboratorij z diagnozo mentalne retardacije in/ali displastičnih znakov. Metode. Vsem bolnikom smo odvzeli 5 ml periferne krvi in jih kariotipizirali. Za odkrivanje kromosomskih sprememb v terminalnih regijah kromosomov smo uporabili metodo FISH z uporabo kompleta Multiprobe T-System (Cytocell) ter posamezne lokusno specifične DNK sonde. Rezultati. Subtelomerne spremembe smo našli pri 5,4% bolnikov. Od tega so pri 3,6% bolnikov subtelomerne aberacije nastale "de novo". 2q subtelomerna delecija: del(2)(qtel), ki smo jo našli pri dveh bolnikih, pa se je izkazala kot dedovani polimorfizem. Subtelomerne aberacije smo potrdili pri enem pacientu z delecijo terminalnega dela kratkega kraka kromosoma X: del(X)(ptel) in pri drugem z delecijo terminalnega dela dolgega kraka 13: del(13)(qtel) in parcialno trisomijo dela dolgega kraka kromosoma 10. Zaključki. S prikazano študijo ugotavljamo, da je metoda FISH z multiplimi subtelomernimi DNK-sondami uporabno diagnostično orodje za odkrivanje enega od vzrokov IMR pri bolnikih z displastičnimi znaki ali brez teh znakov s sicer normalnim kariotipom.
Objavljeno v DKUM: 21.12.2015; Ogledov: 2219; Prenosov: 87
URL Povezava na celotno besedilo

Uporaba primerjalne genomske hibridizacije kot diagnostične metode v medicinskem genetskem laboratoriju : prva uporaba na različnih kliničnih vzorcih
Alenka Erjavec Škerget, Špela Stangler Herodež, Andreja Zagorac, Boris Zagradišnik, Nadja Kokalj-Vokač, 2011, izvirni znanstveni članek

Opis: Purpose: Comparative genomic hybridization (CGH) is a molecular- cytogenetic technique used to identify chromosomal imbalances throughout a genome. Due to its complexity, the use of CGH as a regular diagnostic technique is limited to only a few diagnostic laboratories. In this study, we evaluated the potential applications of CGH as a diagnostic method in different post-natal clinical samples. Methods: Ten patients were recruited with submicroscopic chromosomal abnormalities ranging in size from 3.9 to 37 Mb. For the purpose of confirmation, CGH was applied to five cases where molecular karyotyping with MLPA was previously utilized to detect chromosome aneuploidy. To date, CGH was largely used for the identification of the complex karyotype in haematological malignancies. Results: In eight cases of haematological malignancies, we were able to resolve complex karyotypes with CGH. Utilizing CGH as a diagnostic tool, we detected chromosomal imbalances larger than 8 Mb. In addition, we confirmed all chromosomal aneuploidies that were previously detected with MLPA from embryonic tissues obtained from aborted fetuses. In this tissue, the cells were not mitotically active, and therefore, were inappropriate for the conventional cytogenetics. Conclusion: Because CGH is technically demanding and time consuming, this technique is likely to be inappropriate for screening purposes. However, we found that CGH may be very useful in sporadic cases, where the sample material is not mitotically active or in cases with complex karyotypes. Therefore, our results confirmed that CGH may be useful in laboratories that are unable to use micro-array CGH for economic reasons.
Ključne besede: primerjalna genomska hibridizacija, medicinska genetika, diagnostična metoda
Objavljeno v DKUM: 10.07.2015; Ogledov: 1536; Prenosov: 37
URL Povezava na celotno besedilo
Gradivo ima več datotek! Več...
Gradivo je zbirka in zajema 1 gradivo!

Analiza genetskih dejavnikov pri bolnikih povezanih s pristnostjo HLA-B27
Jasmina Rehar, 2011, raz. nal. na višji ali visoki šoli

Objavljeno v DKUM: 04.01.2012; Ogledov: 3375; Prenosov: 237
.pdf Celotno besedilo (643,74 KB)

Iskanje izvedeno v 0.24 sek.
Na vrh
Logotipi partnerjev Univerza v Mariboru Univerza v Ljubljani Univerza na Primorskem Univerza v Novi Gorici