by Albena Staynova  , Ljubomira Hadjiiska  , Valeria Hadjidekova  and Rositsa Hristova

Received: 14 August 2018;  Published: 22 October 2018;  doi: 10.21926/obm.genet.1804043

Background: The purpose of study was to assess the cytogenetic effect of chronic low dose radiation exposure of nuclear power plant workers using the micronucleus centromere assay. This method allows the differentiation between centromere-positive micronuclei containing whole chromosome and centromere-negative micronuclei containing acentric fragment pointing to clastogenic action of ionizing radiation. Methods: The effect of low dose occupational exposure was estimated in 32 nuclear power plant workers using in si [...]

by Adayabalam S. Balajee

Received: 26 August 2018;  Published: 19 October 2018;  doi: 10.21926/obm.genet.1804042

The technique of in situ hybridization (ISH) using radioactively labeled DNA probes was first described in the late 1960s and early 1970s. The first use of fluorescence in situ hybridization (FISH) was reported in 1980s where RNA labeled with a fluorophore at the 3’ end was used to detect specific DNA sequences. Since then, the technique has undergone various modifications for detecting single genes, chromosomes and whole genomes on various targets such as interphase nucleus, prematurely condensed chromosomes [...]

by Chenggong Han  , Hancong Tang  , Shuyuan Lou  , Yuan Gao  , Min Ho Cho  and Shili Lin

Received: 23 May 2018;  Published: 14 October 2018;  doi: 10.21926/obm.genet.1804041

Whole genome profiling of differential DNA methylation between diseased and normal samples has significant implications in research to understand the role of epigenetic regulations of cells. In recent years, the development of bisulfite sequencing (BS-seq)-based molecular technology has enabled the measurement of DNA methylation at a nucleotide resolution throughout the genome. Given the availability of this new type of DNA methylation data, certain features challenge traditional analytical methods such as the Fish [...]

by Parisa Gazerani

Received: 09 May 2018;  Published: 10 October 2018;  doi: 10.21926/obm.genet.1804040

Interactions between genetic and environmental factors in migraine are well known and can potentially determine an individual’s susceptibility to disease and responsiveness to treatment. Consequently, several epigenetic studies have been conducted to determine if and how genes are activated or inactivated in response to a diverse range of environmental migraine triggers. The results, in turn, have helped elucidate how these factors can promote or inhibit migraine progression or therapeutic response and can guide de [...]

by Stefania Policicchio  , Emma L Dempster  and Therese M Murphy

Received: 20 June 2018;  Published: 06 October 2018;  doi: 10.21926/obm.genet.1804039

Suicide is the second leading cause of death globally among young people and the tenth leading cause of death across all ages. Approximately 800,000 people die by suicide every year representing a significant global health burden. Despite this burden, the molecular pathology of suicide remains poorly understood. A number of recent studies have shown that epigenetic alterations are associated with suicidal behaviour. These epigenetic mechanisms, which act to regulate gene expression via modifications to DNA, histone [...]

by Zhenya Tang  , Jun Gu  , Guilin Tang  and L. Jeffrey Medeiros

Received: 22 July 2018;  Published: 03 October 2018;  doi: 10.21926/obm.genet.1804038

Because of its’ simplicity, reliability and cost-effectiveness, fluorescence in situ hybridization (FISH) is a major technology that is widely applied in clinical diagnosis, especially for hematologic malignancies, even in the era of next-generation sequencing (NGS). In the Clinical Cytogenetics Laboratory at MD Anderson Cancer Center, over 15,000 FISH tests are performed each year, including approximately 1,000 BCR-ABL1 and 500 MYC FISH tests, respectively. In this chapter, we introduce the quality assurance/quali [...]

by Hans Rhode  , Thomas Liehr  , Nadezda Kosyakova  , Martina Rinčić  and Shaymaa S. Hussein Azawi

Received: 30 July 2018;  Published: 19 September 2018;  doi: 10.21926/obm.genet.1803037

(1) Background: Colorectal cancer (CRC) is the third most common cancer in human and the fourth leading cause of adult man’s death. Murine tumor cell lines have been established as a model system for CRC, but their cytogenetic properties have so far been only poorly understood. (2) Methods: The two murine colon tumor cell lines CMT-93 and CT26 (also called CT26.WT, CT-26 or CT-26 WT) were investigated in this study by molecular cytogenetic methods, i.e. by multicolor-fluorescence in situ hybridization (mFISH), muri [...]

by Mitsuko Hirosawa  , Koji Hayakawa  , Kunio Shiota  and Satoshi Tanaka

Received: 05 July 2018;  Published: 17 September 2018;  doi: 10.21926/obm.genet.1803036

Histone modifications play an important role in the control of DNA-based processes by altering the structure and function of chromatin. O-linked N-acetylglucosamine (O-GlcNAc) modification is a form of post-translational modification of proteins that affects the serine (Ser)/threonine (Thr) residues. This process is controlled by a single pair of enzymes, i.e. O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recent evidence indicates the existence of O-GlcNAc modification of histones, with 16 histone O-GlcNAc site [...]

by Maria Kontodiou  , Vassilis Paspaliaris  , Themistoklis Dagklis  , Elisavet Siomou  , Ahmed Hamid Al-Rikabi  , Kalliopi Tsita  , Theano Stavroulaki  , Andreas Pampanos  , Apostolos Zavlanos  , Georgios Papaioannou  , Ioannis Papoulidis  , Loretta Thomaidis  and Emmanouil Manolakos

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035

Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of molecular karyotyping has resulted in improving the characterization of sSMC. Methods: Molecular karyotyping was used for the identification of a sSMC in this study. Results: In [...]

by Ute Moog  and Domenico Coviello

Received: 14 August 2018;  Published: 13 September 2018;  doi: 10.21926/obm.genet.1803034

he publication of the double helix DNA structure in 1953 [1] was the kick-off of numerous efforts to understand and unravel the complexity of the human genome. It took 50 years until the human genome project, based on Sanger sequencing, was completed in 2003 [2]. This was followed by what may be considered a revolution in the field of DNA analysis: the introduction of Next Generation Sequencing (NGS) in 2005 consisting of massively parallel sequencing of DNA fragments which allows the high throughput analysis of la [...]