by Emory Ryan  , Tiffany Jong  and Ellen Sidransky

Received: 20 July 2022;  Published: 26 September 2022;  doi: 10.21926/obm.genet.2203165

Gaucher disease (GD) is one of the most common lysosomal storage disorders resulting from biallelic mutations in the GBA1 gene, causing a dysfunction of the lysosomal hydrolase, glucocerebrosidase (acid-β-glucosidase; E.C 3.2.1.45). Clinical manifestations are heterogenous and can include splenomegaly, anemia, and neurological impairments in the case of neuronopathic Gaucher disease types 2 and 3. Newborn screening, arguably the most important public health initiative to date, has been regularly conducted on newbor [...]

by Anna A. Pendina  , Mikhail I. Krapivin  , Irina D. Mekina  , Irina V. Aleksandrova  , Yanina M. Sagurova  , Evgeniia M. Komarova  , Mariia A. Ishchuk  , Andrei V. Tikhonov  , Olesya N. Bespalova  , Alexander M. Gzgzyan  , Igor Yu. Kogan  and Olga A. Efimova

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 [...]

by Eduardo Garrido  , Javier Botella de Maglia  , Oriol Sibila  and Gustavo Zubieta-Calleja

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 [...]

by Natalia V. Kovaleva  and Philip D. Cotter

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 [...]

by Xinying Hong  and Miao He

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 [...]

by OBM Genetics Editorial Office

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

by Shaymaa Azawi  , Lisa-Marie Barf  , Thomas Liehr  , Stefanie Kankel  and Martina Rincic

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 [...]

by Irina Udina  , Yurii Vasiliev  , Vladimir Volobuyev  , Olga Gulenko  and Alesya Gracheva

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 [...]

by Irina L. Puppo  , Ziravard N. Tonyan  , Alisa N. Panina  , Ksenia V. Shunkina  , Alsu F. Saifitdinova  , Yulia A. Loginova  , Anna A. Kinunen  , Julia R. Pastuhova  , Olga A. Leonteva  , Olga G. Chiryaeva  , Olga V. Маlysheva  , Elena M. Fedorova  , Tatyana V. Vavilova  and Natalia K. Bichevaya

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 [...]

by Jason W. Tate  , Bruce F. O'Hara  and Sainan Wei

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 [...]