Molecular and experimental biology in medicine最新文献_第4页

Resistance of humanimmunodeficiency virus type 1 to integrase strand transfer inhibitors in Croatia 克罗地亚人类免疫缺陷病毒1型对整合酶链转移抑制剂的耐药性

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.5

A. Planinić, Maja Oroz, J. Begovac, S. Z. Lepej

{"title":"Resistance of human\u0000immunodeficiency virus type 1 to integrase strand transfer inhibitors in Croatia","authors":"A. Planinić, Maja Oroz, J. Begovac, S. Z. Lepej","doi":"10.33602/MEBM.2.1.5","DOIUrl":"https://doi.org/10.33602/MEBM.2.1.5","url":null,"abstract":"Integrase strand transfer\u0000inhibitors (INSTIs) are the latest class of antiretroviral drugs that prevent\u0000the integration of proviral DNA into the host genome. The aim of this study was\u0000to describe, for the first time, INSTI resistance mutations observed in\u0000Croatian HIV-infected patients. Methods: The study was\u0000conducted between March 2016 and September 2018 and included 4 previously untreated\u0000patients (antiretroviral, ARV-naive) as well as 18 unsuccessfully treated\u0000HIV-infected patients (ARV-experienced) that have been tested for INSTI\u0000resistance. The genetic data on INSTI resistance was obtained by\u0000population-based sequencing of the integrase gene. Resistance analysis to other\u0000classes of antiretroviral drugs has been performed in some patients by\u0000sequencing the protease gene and a part of the reverse transcriptase HIV-1\u0000gene.\u0000Results: INSTI resistance\u0000mutations were not found in ARV-naive patients. Mutations associated with\u0000resistance to INSTIs have been observed in 5 of 18 (27.8%) patients failing\u0000INSTI-based ARV regiment. Resistance to INSTIs in ARV-experienced patients was\u0000attributed to major resistance mutations Q148R, N155H and E92Q that confer\u0000resistance to two INSTIs (raltegravir and elvitegravir). Conclusions: The results of this study describe the\u0000first 5 cases of ARV-experienced HIV-1 infected patients with clinically\u0000significant resistance to INSTIs, and emphasize the need for continuous\u0000surveillance of INSTI resistance in patients experiencing virological failure\u0000to antiretroviral treatment in Croatia.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126858525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Length heteroplasmy in the predominate mitochondrial DNA haplogroups in the Croatian population 克罗地亚人口中主要线粒体DNA单倍群的长度异质性

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.3

Lucija Barbarić, K. Lipovac, Viktorija Sukser, Sara Rožić, M. Korolija

{"title":"Length heteroplasmy in the predominate mitochondrial DNA haplogroups in the Croatian population","authors":"Lucija Barbarić, K. Lipovac, Viktorija Sukser, Sara Rožić, M. Korolija","doi":"10.33602/MEBM.2.1.3","DOIUrl":"https://doi.org/10.33602/MEBM.2.1.3","url":null,"abstract":"Mitochondrial control region represents the most\u0000variable segment of the mitochondrial genome. The frequency and pattern of\u0000heteroplasmy has been described in several studies; however, none of the\u0000reports documented the Croatian population. In the present study, we screened\u0000the control region (1122 bp) of 95 individuals belonging to two predominant\u0000mitochondrial phylogenetic branches in the Croatian population, haplogroups H\u0000and U. Length heteroplasmy occurred in polycytosine (poly-C) tracts within\u0000three hypervariable segments of the control region with the following\u0000frequencies: HVSI - 26.3%, HVSII - 52.6%\u0000and HVSIII - 7.4%. Furthermore, the association between certain polymorphisms\u0000in HVSI and length heteroplasmy was investigated. Our results indicate that\u0000only polymorphisms located in the poly-C tract are associated with HVSI length\u0000heteroplasmy. The T to C transition at np 16189 is significantly associated\u0000with the occurrence of length heteroplasmy (p<0.0001). This effect was even\u0000stronger if the C insertion was present in the position 16193. The data support\u0000the hypothesis that an uninterrupted poly-C tract of more than eight cytosines\u0000leads to length heteroplasmy. Length heteroplasmy associated with the T to C\u0000substitution in np 16189 was predominantly found in haplogroup U.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131041640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hereditary hemochromatosisgene mutations in patients with myocardial infarction 心肌梗死患者的遗传性血色素基因突变

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.4

I. Škrlec, R. Steiner, J. Wagner

{"title":"Hereditary hemochromatosis\u0000gene mutations in patients with myocardial infarction","authors":"I. Škrlec, R. Steiner, J. Wagner","doi":"10.33602/MEBM.2.1.4","DOIUrl":"https://doi.org/10.33602/MEBM.2.1.4","url":null,"abstract":"Hereditary\u0000hemochromatosis (HH) is a disorder of iron accumulation in tissues, which is\u0000related to coronary heart diseases. Free radicals and reactive oxygen species,\u0000created because of iron deposition, promote oxidation of LDL cholesterol and\u0000could lead to the development of atherosclerosis. Studies have shown that HFE gene mutation carriers might be at\u0000higher risk of developing cardiovascular diseases compared with non-carriers. This study aimed to determine\u0000the frequency of HFE gene mutations\u0000in patients with myocardial infarction compared to a healthy group in eastern\u0000Slavonia. A retrospective case-control\u0000study was carried out on a population of 400 participants. In the first group\u0000there were 200 patients (114 males and 86 females) with myocardial infarction.\u0000The second group consisted of 200 controls (103 males and 97 females) without a\u0000history of cardiovascular diseases. All patients were genotyped\u0000for the three most common mutations of the HH in the HFE gene: C282Y, H63D, and\u0000S65C, by real-time PCR. The difference in the frequency of carriers of these\u0000mutations between the patients and the controls was not significant (C282Y: 4.5\u0000vs. 8.1%; H63D: 19 vs. 24.5%; S65C: 3.5 versus 4%), and neither was the\u0000frequency and distribution of possible HFE\u0000gene genotypes and compound heterozygotes. There were no statistically\u0000significant associations of cardiovascular risk factors and HFE gene mutations in patients with\u0000myocardial infarction. In this study, no association was found between the\u0000HFE gene mutation for HH and\u0000myocardial infarction in the population of eastern Slavonia.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"52 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132831298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Quantitative PCR technologyin chimerism status evaluation after hematopoietic stem cell transplantation 定量PCR技术在造血干细胞移植后嵌合状态评价中的应用

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.8

K. Jankovic

引用次数: 0

Interstitial 14q31.3-q32.13deletion 间质14 q31.3-q32.13deletion

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.9

K. Gornik, Ivana Tonkovic Durisevic, Anica Bilić, Sanda Huljev Frković

引用次数: 1

LINE-1 DNA methylation andcongenital heart defects in Down syndrome 唐氏综合征的LINE-1 DNA甲基化与先天性心脏缺陷

Molecular and experimental biology in medicine Pub Date : 2019-04-04 DOI: 10.33602/MEBM.2.1.6

J. Vraneković, Ivana Babić Božović, M. Živković, A. Stanković, Bojana Brajenovic Milic

{"title":"LINE-1 DNA methylation and\u0000congenital heart defects in Down syndrome","authors":"J. Vraneković, Ivana Babić Božović, M. Živković, A. Stanković, Bojana Brajenovic Milic","doi":"10.33602/MEBM.2.1.6","DOIUrl":"https://doi.org/10.33602/MEBM.2.1.6","url":null,"abstract":"DNA methylation is a key epigenetic mechanism that plays a significant role in regulating gene activity during cardiac development. Congenital heart defects (CHD) are one of the most common abnormalities occurring in 40% -60% of cases with Down syndrome (DS). The main aim of this study\u0000was to establish the association of long interspersed nucleotide element-1 (LINE-1) DNA methylation in children with DS and the presence of CHD. The LINE-1 DNA methylation was investigated in peripheral blood lymphocytes on a sample of 42 people with DS by quantification of LINE-1\u0000methylation using the MethyLight method. No significant differences in global DNA methylation were found according to the presence of CHD (P=1.000), but values of LINE-1 DNA methylation were significantly influenced by gender (R2=19.1%; P=0.025). Significant probability of 19.1% was found in women with DS who had lower LINE-1 DNA methylation values than DS male . Gender was a statistically significant predictor of LINE-1 DNA methylation, although the difference was not statistically\u0000significant, female subjects had lower LINE-1 DNA methylation values (P=0.068). Further research will clarify the role of lower LINE-1 DNA methylation in the formation of CHD among DS females.","PeriodicalId":301899,"journal":{"name":"Molecular and experimental biology in medicine","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125201244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1