Table of Content

Open Access Review

The Role of Mitochondria in Oocyte and Early Embryo Health

Received: 01 January 2019;  Published: 29 March 2019;  doi: 10.21926/obm.genet.1901070

Abstract

The mitochondria of the oocyte are a prominent source of energy metabolism as well as mitochondrial DNA that will later populate the cells of the offspring. Recent discoveries provided new insight into the physiology of the mitochondria and its unique genetics. The concept of heteroplasmy defined as the presence of more than one type of mitochondrial genome, is gaining increasing recognition as an important contributor to several complex morbidities, age-related reproductive dysfunction and aging. Understanding the [...]

1622 19443

Open Access Opinion

Clonal Heterogeneity in Non-Small Cell Lung Cancer and the Possible Role in Predicting Response to Treatment with Immune Checkpoint Inhibitors

Received: 15 November 2018;  Published: 22 March 2019;  doi: 10.21926/obm.genet.1901069

Abstract

Immune oncology treatment with immune checkpoint inhibitors (ICIs) is revolutionizing therapeutic approach for advanced non-small cell lung cancer (NSCLC) patients, in terms of longer survival and improved quality of life. To date, the widely used and approved biomarker is programmed death ligand 1 (PD-L1) expression on tumour cells, but it is considered not accurate and it is more likely that many factors, related to both cancer and host, may better predict response to ICI. Among those factors, great attention is [...]

1366 6917

Open Access Review

FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease

Received: 08 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901068

Abstract

Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of children with neuropsychiatric diseases and congenital malformations. To understand mechanisms of non-cancerous diseases potentially mediated by chromosome instability, which may represent an important target for molecu [...]

1325 8637

Open Access Technical Note

Interphase Quantitative Fluorescence in Situ Hybridization (IQ-FISH)

Received: 02 February 2019;  Published: 20 March 2019;  doi: 10.21926/obm.genet.1901067

Abstract

Fluorescence in situ hybridization (FISH) seems to be the most applicable and versatile molecular cytogenetic platform for interphase chromosome analysis offering a variety of opportunities for studying chromosomal structure and behaviour at the highest microscopic resolution and at all stages of the cell cycle. Quantitative assessment of FISH results has been repeatedly shown to increase the efficiency of FISH-based approaches. Here, we explore the potential of interphase quantitative FISH (IQ-FISH), which is the [...]

1410 8024

Open Access Research Article

New DNA Extraction Method for the Detection of Pneumocystis in Lung Tissue Samples of Colonized Individuals

Received: 30 January 2019;  Published: 18 March 2019;  doi: 10.21926/obm.genet.1901066

Abstract

Background: Pneumocystis jirovecii colonization in patients is associated with a low organism burden, which supports the need to use highly sensitive molecular techniques, such as nested-PCR to determine the presence of the organism. However, few studies have considered the effect of nucleic acid extraction methods on the detection of P. jirovecii. Here, we evaluate how pre-treatment affects microbial detection. Methods: Lung tissue samples from fifteen autopsied infants were processed using two different DNA extra [...]

1325 8056

Open Access Research Article

New Tools in Cognitive Neurobiology: Biotin-Digoxigenin Detection of Overlapping Active Neuronal Populations by Two-Color c-fos Compartment Analysis of Temporal Activity by Fluorescent in situ Hybridization (catFISH) and c-Fos Immunohistochemistry

Received: 12 October 2018;  Published: 04 March 2019;  doi: 10.21926/obm.genet.1901065

Abstract

The method of cellular compartment analysis of temporal activity by fluorescent in situ hybridization (catFISH) is widely used in cellular and behavioral neurobiology. It exploits stimulus-induced expression of immediate early genes (IEGs) and allows identification of two neuronal populations activated in the brain of the same animal in response to neural or behavioral events spaced by 25-30 min. The differential labeling is based on visualization of nuclear RNA and cytoplasmic mRNA which is accumulated in neurons [...]

1721 12819

Open Access Research Article

COMBO-FISH: A Versatile Tool Beyond Standard FISH to Study Chromatin Organization by Fluorescence Light Microscopy

Received: 14 September 2018;  Published: 19 February 2019;  doi: 10.21926/obm.genet.1901064

Abstract

Background: Fluorescence In Situ Hybridization (FISH) has become routine for bio-medical research and medical diagnosis, thereby offering a variety of probes and ready-to-use kits that fulfil requirements for many applications. However, conventional FISH relies on chemo- and/or thermal denaturation to improve target accessibility and use huge amounts of DNAs that needs to be bonded to the target site. COMBinatorial Oligo-nucleotide FISH (COMBO-FISH) offers possibilities to circumvent these shortcomings. Methods: C [...]

1553 11425

Open Access Opinion

Interphase FISH: A Helpful Assay in Prenatal Cytogenetics Diagnosis

Received: 01 October 2018;  Published: 28 January 2019;  doi: 10.21926/obm.genet.1901063

Abstract

Since its introduction around the end of the 1970s, interphase in situ hybridization supports classical and latest techniques for determining foetal karyotype in the prenatal diagnosis, providing relevant information for the management of pregnancy quickly. Interphase FISH plays an important role in the study of pregnancies with malformations, in mosaicism conditions, in confirming or excluding aneuploidy detected by non-invasive prenatal testing and in diagnosis of contiguous gene syndromes due to microdeletions. [...]

1719 16762

Open Access Technical Note

Repli-FISH (Fluorescence in Situ Hybridization): Application of 3D-(Immuno)-FISH for the Study of DNA Replication Timing of Genetic Repeat Elements

Received: 22 July 2018;  Published: 25 January 2019;  doi: 10.21926/obm.genet.1901062

Abstract

Background: Genetic repeat elements (interspersed or tandem repeats) have diverse functions within cells and at different phases of the cell cycle. Yet, their investigation at a genome-wide scale has been difficult ever since due to their repetitive nature. Here, we describe a method to study the DNA replication kinetics of different repeat elements in single cells throughout the S-phase of the cell cycle. Methods: Mouse major satellite, minor satellite and telomere repeat elements as well as human LINE-1 and Alu r [...]

1596 749358

Open Access Short Report

The Usefulness of Preimplantation Genetic Testing for Chromosome Aneuploidy Informed by A Randomised Controlled Trial

Received: 29 October 2018;  Published: 22 January 2019;  doi: 10.21926/obm.genet.1901061

Abstract

United Kingdom guidelines recommend single embryo transfer (fresh or cryopreserved) in the first full assisted conception cycle for women under 40 years most at risk of having twins. Based on a recent randomized clinical trial for women aged 36 to 40 years, the hypothetical effect of preimplantation genetic testing for chromosome aneuploidy was extrapolated to single transfer of every morphologically transferable embryo available from a full cycle. Offering testing to every woman seems likely to result in fewer cli [...]

1307 7283