Genetics Applications最新文献_第4页

4 Model order reduction in microelectronics 微电子模型订单减少

Genetics Applications Pub Date : 2020-12-16 DOI: 10.1515/9783110499001-004

引用次数: 1

Relationship between H1 and H2 haplotypes of the 17q21 inversion and pregnancy loss in Bosnian population: A case - control study 波斯尼亚人群17q21倒置H1和H2单倍型与妊娠损失的关系：一项病例对照研究

Genetics Applications Pub Date : 2019-12-24 DOI: 10.31383/ga.vol3iss3pp33-37

G. Adler, E. Mahmutbegović, I. Uzar, M. Adler, N. Mahmutbegović

{"title":"Relationship between H1 and H2 haplotypes of the 17q21 inversion and pregnancy loss in Bosnian population: A case - control study","authors":"G. Adler, E. Mahmutbegović, I. Uzar, M. Adler, N. Mahmutbegović","doi":"10.31383/ga.vol3iss3pp33-37","DOIUrl":"https://doi.org/10.31383/ga.vol3iss3pp33-37","url":null,"abstract":"Background: The 17q21.31 band is one of the most structurally complex and evolutionarily dynamic region of the genome. Frequencies of two SNPs: rs9468 and rs1800547 determine worldwide distribution of H1 and H2 haplotypes. Recent studies have demonstrated that H2 haplotype is ancestral in hominoids and under positive selection in European populations. The role of non-inverted orientation (H1 haplotype) and inverted orientation (H2) remains unclear, i.a. it is suggested that mothers who are H1H2 heterozygotes, tend to have more children than H2H2 homozygotes on average. Materials and methods: We investigated the prevalence of haplotypes of the 17q21 inversion in 154 women with pregnancy loss and 154 mothers with at last one live-born child, mean age: 33.0 (±5.4) y/o and 31.4 (±6.7) y/o, respectively. Following DNA extraction from buccal swabs, the genotyping was performed. All tests were performed using the R CRAN statistical software. Haplotypes were compared between groups. Results: In women with and without pregnancy loss we identified: 74.7% and 79.2% H1H1, 24.0% and 17.5% H1H2 and 1.3% and 3.3% H2H2 of haplotypes, respectively. There were no significant differences between the distributions of haplotypes in women with and without pregnancy loss. Statistically significant difference between the average number of children in women with H1H2 haplotype (navg. = 1.54) compared to women with H2H2 haplotype (navg. = 1.29), was not found. Conclusion: Haplotype H2 of the 17q21.31 inversion was not linked to pregnancy loss and number of children in Bosnian women.","PeriodicalId":32642,"journal":{"name":"Genetics Applications","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47509143","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

Special Edition 特别版

Genetics Applications Pub Date : 2019-10-01 DOI: 10.31383/ga.vol3iss2pp1-134

Abdurahim Kalajdžić

引用次数: 0

In Memoriam: Ljubomir Berberović (1933 – 2019) 纪念：卢博米尔·贝贝罗维奇（1933–2019）

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/ga.vol3iss1pp1-2

Editorial Team

引用次数: 0

Cytogenetic anomalies in Multiple Myeloma patients:A single center study. 多发性骨髓瘤患者的细胞遗传学异常:单中心研究。

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP51-56

Süreyya Bozkurt, Y. Buyukasik, H. Demiroğlu, Elifcan Aladağ Karakulak, M. Okay, A. Karataş, S. Aksu, I. Haznedaroglu, N. Sayınalp, O. Özcebe, H. Goker

{"title":"Cytogenetic anomalies in Multiple Myeloma patients:A single center study.","authors":"Süreyya Bozkurt, Y. Buyukasik, H. Demiroğlu, Elifcan Aladağ Karakulak, M. Okay, A. Karataş, S. Aksu, I. Haznedaroglu, N. Sayınalp, O. Özcebe, H. Goker","doi":"10.31383/GA.VOL3ISS1PP51-56","DOIUrl":"https://doi.org/10.31383/GA.VOL3ISS1PP51-56","url":null,"abstract":"Conventional karyotyping in the patients with Multiple myeloma (MM) is very important. Because chromosomal abnormalities which detected in these patients have diagnostic and prognostic value. In this retrospective study we aim to evaluate cytogenetic abnormalities in 133 MM patients which diagnosed at the Hematology Department of Hacettepe University. Samples were treated with trypsin and stained with Giemsa (GTG banding). 20 metaphases of each patient were examined and karyotypes were formed. Cytogenetic results of the patient’s bone marrow samples were not obtained in 19 patients, while in 116 patients karyotyping was performed. Among of these 116 patients showed that 80 patients had normal karyotpe while 34 patients had abnormal karyotypes. Both numerical and structural chromosomal anomalies were detected in patients with abnormal karyotype. Numerical and structural anomalies of chromosomes 1, 9, 16 and 13 were detected most frequently among these complex karyotypes. The anomalies we found in our patient group were consistent with the literature.","PeriodicalId":32642,"journal":{"name":"Genetics Applications","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43955243","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

Lead and cadmium induced cytotoxic and genotoxic effects on HL-60 and Jurkat cell lines 铅和镉对HL-60和Jurkat细胞系的细胞毒性和遗传毒性作用

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP57-64

E. Dautović, M. Husejnović, M. Bergant, Damir Sabitović, N. Srabović, A. Smajlović, L. Begić, A. Softić

引用次数: 2

Validation of CRC and NSCLC somatic mutations detected by NGS using ddPCR 基于ddPCR的NGS检测CRC和NSCLC体细胞突变的验证

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP71-76

Lana Salihefendić, Dino Pećar, R. Konjhodžić

{"title":"Validation of CRC and NSCLC somatic mutations detected by NGS using ddPCR","authors":"Lana Salihefendić, Dino Pećar, R. Konjhodžić","doi":"10.31383/GA.VOL3ISS1PP71-76","DOIUrl":"https://doi.org/10.31383/GA.VOL3ISS1PP71-76","url":null,"abstract":"Next Generation Sequencing (NGS) has become powerful tool in molecular oncology. It allows multiparallel targeted sequencing that enables comprehensive assessment of tumor heterogeneity. Detection of mutations in colorectal cancer (CRC) and non-small cell lung cancer (NSCLC) defines patients diagnosis, therapy and prognosis. Multiple genes, their somatic mutations to be precise, carry different degrees of importance for any of these stages. Ion AmpliSeq™ Colon and Lung Cancer Research Panel v2, which was used in this study, allows detection of hotspot mutations on 22 genes in a single reaction. Droplet digital PCR (ddPCR) has a unique advantage in low frequency mutation detection and it has been used as a validation method for mutations that were detected with NGS. It has high sensitivity and enables accurate detection of mutant allele in a background of abundant wild type alleles. For this study 35 samples of CRC and NSCLC were sequenced and same samples were analysed on ddPCR for KRAS, NRAS, EGFR and BRAF genes. All processed samples were successfully sequenced and had average base coverage >500X. NGS sequencing proved itself to be cost effective, has shorter turnaround time and is highly sensitive. Out of 35 samples, 25 had genetic alterations, while 10 samples are reported as wild type but were still tested on ddPCR as controls. In three samples low frequency somatic mutations were detected by NGS and verified using ddPCR, which leads us to conclusion that ddPCR is a good tool for verification of somatic mutations in CRC and NSCLC.","PeriodicalId":32642,"journal":{"name":"Genetics Applications","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69567206","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

Assessment of Listerine Cool Mint mouthwash influence on possible DNA damage measured by buccal micronucleus cytome assay-preliminary results 口腔微核细胞组测定李斯德林清凉薄荷漱口水对可能DNA损伤影响的初步结果

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP24-35

M. Milić, I. Bolanča, Dora Gjirlić, V. Benković

{"title":"Assessment of Listerine Cool Mint mouthwash influence on possible DNA damage measured by buccal micronucleus cytome assay-preliminary results","authors":"M. Milić, I. Bolanča, Dora Gjirlić, V. Benković","doi":"10.31383/GA.VOL3ISS1PP24-35","DOIUrl":"https://doi.org/10.31383/GA.VOL3ISS1PP24-35","url":null,"abstract":"Listerine is a brand of mouthwash most used worldwide in oral hygene maintainance. With its antimicrobic and antifungal characteristics, it can stop/diminish plaque and gingivitis development. Among different types of this mouthwash, all 5 ingredients of Listerine Cool Mint, 21.6% ethanol and 4 herbal extracts-thymol, menthol, eucalyptol and methyl salicylate, have shown capacity to cause cell damage and buccal epithelial cells are in direct contact. Buccal micronucleus cytome assay (BMN) measures changes in differentiation as the frequency of basal/differentiated, binuclear, and cells in different phases of cell death-apoptosis/necrosis (cells with condensed chromatin, karriorhectic, pycnotic and karyolitic cells) and changes in genomic instability measured as micronucleus or nuclear buds/broken eggs frequency. Samples from 10 healthy individuals using Listerine Cool Mint mouthwash twice/day during two-week treatment were analyzed before and after the treatment. There was no significant influence on cell differentiation and genomic instability on the group level, although micronucleus frequency (MN) of entire group was higher after the treatment (1 vs. 1.5). We found interindividual differences and showed that strong alcoholic drinks consumers had higher MN. Future studies should include more individuals, especially with regular alcohol consummation for analysis of possible synergistic influence and therefore higher risk of genomic instability, together with genetic polymorphisms in enzymes responsible for metabolism of ethanol, since they can drastically influence the time duration of ethanol exposure and its metabolite acetaldehyde and also have an impact on genomic instability and possible development of oral squamous cell cancer.","PeriodicalId":32642,"journal":{"name":"Genetics Applications","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44784037","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: 4

ALRATIO - R script for the analysis of relation between the effective and the detected number of alleles ALRATIO-R脚本用于分析等位基因的有效数量和检测数量之间的关系

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP77-80

N. Pojskić

引用次数: 6

MtDNA variations in three main ethnic populations in Tuzla Canton of Bosnia and Herzegovina 波斯尼亚和黑塞哥维那图兹拉州三个主要民族MtDNA变异

Genetics Applications Pub Date : 2019-06-26 DOI: 10.31383/GA.VOL3ISS1PP14-23

A. Ahmić, R. Hadziselimovic, Elma Silajdžić, Irma Mujkić, N. Pojskić

{"title":"MtDNA variations in three main ethnic populations in Tuzla Canton of Bosnia and Herzegovina","authors":"A. Ahmić, R. Hadziselimovic, Elma Silajdžić, Irma Mujkić, N. Pojskić","doi":"10.31383/GA.VOL3ISS1PP14-23","DOIUrl":"https://doi.org/10.31383/GA.VOL3ISS1PP14-23","url":null,"abstract":"This study was designed on the analysis of the mtDNA polymorphisms in three ethnic populations of Tuzla Canton of Bosnia and Herzegovina (Bosniaks, Croats and Serbs). The main aim of this study was to analyze the influences of the maternal gene flow on the genetic profile of the analyzed populations. The analysis of mtDNA variation based on relevant restriction fragment length polymorphisms (RFLP) in combination with HVSI variations of the control region (for detection of subhaplogroups of the haplogroup U) enabled the identification of the typical of the Western-Eurasian haplogroups (H, I, J, T, W, U, HV, HVO, K, V, and X), African/Near East lineages N1a and Asian haplogroup M. Our results suggest that mitochondrial gene pool of the three main ethnic groups of Tuzla region was shaped by influences of early and late migration routes which marked the settlement process of the Balkans. The effects of different migration directions are illustrated by the distribution of important indicators of the Late Glacial expansion (U5a), postglacial re-colonisation of Europe from glacial refuges of southwestern European (H, V, U5b1), central-eastern European Plain (U4), Italian Peninsula (U5b3) and neolithic expansion (U3, N1a, J and T). Our data can indicate a common genetic history, origin, as well as a similar contribution of the parental and maternal gene flow on genetic structure of the three main ethnic populations of modern Bosnia and Herzegovina.","PeriodicalId":32642,"journal":{"name":"Genetics Applications","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43976057","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