Table of Content

Open Access Technical Note

Successive Detection of Telomerase by IHC and Assessment of Telomere Length by Q-FISH in Paucicellular Cumulus Samples from Cumulus-Oocyte Complexes Obtained in Assisted Reproduction Programs

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164


This paper suggests an approach for the use of a single paucicellular histological sample to investigate two characteristics indicative of the cell’s functional potential: 1) the content of telomerase reverse transcriptase (TERT) and 2) the telomere length. An algorithm has been suggested for the successive detection of the catalytic telomerase subunit with immunohistochemical staining and assessment of telomere length with Q-FISH on the same set of cells. The described approach uses three incontestable advantages [...]

301 2908

Open Access Opinion

High-Altitude Pulmonary Edema in the Context of COVID-19

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163


High-altitude pulmonary edema (HAPE) and COVID-19 pneumonia are different diseases, but HAPE-susceptible individuals (whose susceptibility often has a genetic basis) can also suffer from severe COVID-19. We hypothesized that certain pathogenic mechanisms might overlap if such a coincidence occurs, since these patients could react to alveolar hypoxia with a more intense and heterogeneously distributed pulmonary vasoconstriction than non-HAPE-susceptible patients. It is also not known how future altitude acclimatizat [...]

275 4075

Open Access Review

Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric History

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162


Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

356 4130

Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161


Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for different types of galactosemia are described. This review has a focus on the screening methodologies, including the principle of the assay, the transition from the initial bacteria inhibition test to the modern fluorometr [...]

377 4347

Open Access Interview

An Interview with Dr. Mark Stoneking

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

208 3311

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159


After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this study, we performed molecular karyotyping and multicolor banding-based molecular cytogenetics. A slightly hyperdiploid karyotype with 43 chromosomes was described. The main aberrations comprised several unbalanced translocat [...]

304 3527

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158


In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnodarskii Krai. The genotypes A1/A1 and L/L (L-“long” alleles) (rs2234663) provided resistance to the most intensive form of dental caries. The groups of children with DFC (decompensated form of caries) were significantly different from the pooled group SFC (subcompensated form of cari [...]

334 3954

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157


Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be [...]

429 4391

Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156


The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans: blood group chimerism, microchimerism, and fusion chimerism. Fusion chimerism may occur through several means. Sex-chromosome discordant chimerism refers to individuals with [...]

879 10579

Open Access Original Research

Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates

Received: 01 March 2022;  Published: 14 June 2022;  doi: 10.21926/obm.genet.2202155


In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal and hypoxic conditions. In addition, we studied the induction of epithelial–mesenchymal transition (EMT). The CDDP treatment under hypoxia indicated poor adhesion of MDA-MB-231 cells as well as significant repression of [...]

306 3171