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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/28534314/rapid-molecular-sexing-of-three-spined-sticklebacks-gasterosteus-aculeatus-l-based-on-large-y-chromosomal-insertions
#1
Theo C M Bakker, Thomas Giger, Joachim G Frommen, Carlo R Largiadèr
There is a need for rapid and reliable molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus, the supermodel species for evolutionary biology. A DNA region at the 5' end of the sex-linked microsatellite Gac4202 was sequenced for the X chromosome of six females and the Y chromosome of five males from three populations. The Y chromosome contained two large insertions, which did not recombine with the phenotype of sex in a cross of 322 individuals. Genetic variation (SNPs and indels) within the insertions was smaller than on flanking DNA sequences...
May 22, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28493051/erratum-to-genetic-analysis-of-four-european-huchen-hucho-hucho-linnaeus-1758-broodstocks-from-poland-germany-slovakia-and-ukraine-implication-for-conservation
#2
M Kucinski, D Fopp-Bayat, T Liszewski, V W Svinger, I Lebeda, R Kolman
No abstract text is available yet for this article.
May 10, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28488059/comparative-analysis-of-genetic-architectures-for-nine-developmental-traits-of-rye
#3
Piotr Masojć, P Milczarski, P Kruszona
Genetic architectures of plant height, stem thickness, spike length, awn length, heading date, thousand-kernel weight, kernel length, leaf area and chlorophyll content were aligned on the DArT-based high-density map of the 541 × Ot1-3 RILs population of rye using the genes interaction assorting by divergent selection (GIABDS) method. Complex sets of QTL for particular traits contained 1-5 loci of the epistatic D class and 10-28 loci of the hypostatic, mostly R and E classes controlling traits variation through D-E or D-R types of two-loci interactions...
May 9, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#4
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28382466/using-a-system-of-differential-equations-that-models-cattle-growth-to-uncover-the-genetic-basis-of-complex-traits
#5
Mateus Castelani Freua, Miguel Henrique de Almeida Santana, Ricardo Vieira Ventura, Luis Orlindo Tedeschi, José Bento Sterman Ferraz
The interplay between dynamic models of biological systems and genomics is based on the assumption that genetic variation of the complex trait (i.e., outcome of model behavior) arises from component traits (i.e., model parameters) in lower hierarchical levels. In order to provide a proof of concept of this statement for a cattle growth model, we ask whether model parameters map genomic regions that harbor quantitative trait loci (QTLs) already described for the complex trait. We conducted a genome-wide association study (GWAS) with a Bayesian hierarchical LASSO method in two parameters of the Davis Growth Model, a system of three ordinary differential equations describing DNA accretion, protein synthesis and degradation, and fat synthesis...
April 5, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28349380/a-new-assay-based-on-terminal-restriction-fragment-length-polymorphism-of-homocitrate-synthase-gene-fragments-for-candida-species-identification
#6
Kasjan Szemiako, Anna Śledzińska, Beata Krawczyk
Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new application of the terminal restriction fragment length polymorphism (t-RFLP) method in the molecular identification of six species of Candida, which are the most common causes of fungal infections...
March 27, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28342159/genetic-aspects-of-feed-efficiency-and-reduction-of-environmental-footprint-in-broilers-a-review
#7
REVIEW
Ewa Sell-Kubiak, Klaus Wimmers, Henry Reyer, Tomasz Szwaczkowski
Currently, optimization of feed efficiency is one of the main challenges in improvement programs of livestock and poultry genetics. The objective of this review is to present the genetic aspects of feed efficiency related traits in meat-type chicken and possible ways to reduce the environmental impact of poultry meat production with effective breeding. Basic measures of feed efficiency are defined and the genetic background of these traits, including a review of heritabilities is described. Moreover, a number of genomic regions and candidate genes determining feed efficiency traits of broilers that were detected over the past decades are described...
March 24, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28324282/recurrent-bowel-blood-translocations-of-escherichia-coli-with-the-unique-virulence-characteristics-over-three-year-period-in-the-patient-with-acute-myeloid-leukaemia-case-report
#8
Beata Krawczyk, Anna Śledzińska, Agnieszka Piekarska, Andrzej Hellmann, Józef Kur
In patients with haematological malignancies, the bowel remains the main source of Escherichia coli bloodstream infections. We present the clinical example of recurrent bowel-blood translocations of E. coli with the unique virulence characteristics in a 55-year-old male with the diagnosis of acute myeloid leukaemia. The virulent factors profile of examined strains confirmed that the co-existence of genes papC, sfa, usp and cnf1, encoding virulence factors, predisposes E. coli to translocation from the gastrointestinal tract to the vascular bed...
March 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28050760/identification-of-novel-candidate-genes-for-the-inverted-teat-defect-in-sows-using-a-genome-wide-marker-panel
#9
Helena Chalkias, Elisabeth Jonas, Lisa S Andersson, Magdalena Jacobson, Dirk Jan de Koning, Nils Lundeheim, Gabriella Lindgren
The number of functional teats is an important selection criterion in pig breeding. Inherited defects of the udder, such as the inverted teat, do have a considerable negative impact on the nursing ability of the sow. To investigate the genetic background of this defect and the number of functional teats in Swedish maternal lines, samples from 230 Yorkshire pigs were selected for genotyping using the PorcineSNP60K BeadChip (Illumina Inc.), each pig with at least one inverted teat was matched with one non-affected pig (fullsib or pairs with matching herd and gender)...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27910062/plasma-and-saliva-mir-21-expression-in-colorectal-cancer-patients
#10
A A Sazanov, E V Kiselyova, A A Zakharenko, M N Romanov, M I Zaraysky
MicroRNA-21 (miR-21) expression was quantified by real-time qRT-PCR in peripheral blood and saliva samples obtained from patients diagnosed with colorectal cancer (CRC) of varying degrees of malignancy and healthy volunteers. All patients had adenocarcinoma located in the distal colon at different stages. Significant differences were detected between the control group and the total experimental group of CRC patients (plasma, P = 0.0001; saliva, P = 5e-12). MiR-21 expression was also significantly different in certain subgroups of patients with CRC disease stages II-IV as compared to the control group...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27888475/assessing-contamination-of-microalgal-astaxanthin-producer-haematococcus-cultures-with-high-resolution-melting-curve-analysis
#11
Adam Dawidziuk, Delfina Popiel, Magda Luboinska, Michal Grzebyk, Maciej Wisniewski, Grzegorz Koczyk
Due to its superior antioxidant capabilities and higher activity than other carotenoids, astaxanthin is used widely in the nutraceutical and medicine industries. The most prolific natural producer of astaxanthin is the unicellular green microalga Haematococcus pluvialis. The correct identification of any contaminants in H. pluvialis cultures is both essential and nontrivial for several reasons. Firstly, while it is possible to distinguish the main microalgal contaminant Coelastrella sp. (in H. pluvialis cultures), in practice, it is frequently a daunting and error-prone task for personnel without extensive experience in the microscopic identification of algal species...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27826892/the-effect-of-ugt1a9-cyp2b6-and-cyp2c9-genes-polymorphism-on-individual-differences-in-propofol-pharmacokinetics-among-polish-patients-undergoing-general-anaesthesia
#12
Adam Mikstacki, Oliwia Zakerska-Banaszak, Marzena Skrzypczak-Zielinska, Barbara Tamowicz, Michał Prendecki, Jolanta Dorszewska, Marta Molinska-Glura, Malgorzata Waszak, Ryszard Slomski
Propofol (2,6-diisopropylphenol) is one of the safest and most commonly used anaesthetic agents for intravenous general anaesthesia. However, in clinical practice, a large inter-individual variability in response to propofol is observed. To limit the risk of adverse effects, pharmacogenetic investigations are recommended. The aim of our study was to verify the impact of genetic changes c.516G>T in the CYP2B6, c.98T>C in the UGT1A9 and c.1075A>C in the CYP2C9 genes on the individual propofol pharmacokinetic profile in the Polish patients undergoing general anaesthesia...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27743251/similarities-and-differences-in-the-nuclear-genome-organization-within-pooideae-species-revealed-by-comparative-genomic-in-situ-hybridization-gish
#13
Joanna Majka, Maciej Majka, Michał Kwiatek, Halina Wiśniewska
In this paper, we highlight the affinity between the genomes of key representatives of the Pooideae subfamily, revealed at the chromosomal level by genomic in situ hybridization (GISH). The analyses were conducted using labeled probes from each species to hybridize with chromosomes of every species used in this study based on a "round robin" rule. As a result, the whole chromosomes or chromosome regions were distinguished or variable types of signals were visualized to prove the different levels of the relationships between genomes used in this study...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27726070/a-novel-tpm2-gene-splice-site-mutation-causes-severe-congenital-myopathy-with-arthrogryposis-and-dysmorphic-features
#14
Magdalena Mroczek, Dagmara Kabzińska, Krystyna H Chrzanowska, Maciej Pronicki, Andrzej Kochański
To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks...
May 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28247318/a-rare-subclinical-or-mild-type-of-becker-muscular-dystrophy-caused-by-a-single-exon-48-deletion-of-the-dystrophin-gene
#15
Janusz G Zimowski, Jacek Pilch, Magdalena Pawelec, Joanna K Purzycka, Jolanta Kubalska, Karolina Ziora-Jakutowicz, Magdalena Dudzińska, Jacek Zaremba
In the material of 227 families with Becker muscular dystrophy (BMD), we found nine non-consanguineous families with 17 male individuals carrying a rare mutation-a single exon 48 deletion of the dystrophin gene-who were affected with a very mild or subclinical form of BMD. They were usually detected thanks to accidental findings of elevated serum creatine phosphokinase (sCPK). A thorough clinical analysis of the carriers, both children (12) and adults (5), revealed in some of them muscle hypotonia (10/17) and/or very mild muscle weakness (9/17), as well as decreased tendon reflexes (6/17)...
February 28, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28191600/molecular-characterisation-of-tumour-necrosis-factor-alpha-and-its-potential-connection-with-lipoprotein-lipase-and-peroxisome-proliferator-activated-receptors-in-blunt-snout-bream-megalobrama-amblycephala
#16
Man Zhou, Hai-Feng Mi, Wen-Bin Liu, Ye-Yang Wu, Kai-Zhou Wang, Guang-Zhen Jiang
Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-length cDNA of TNF-α covered 1467 bp, with an open reading frame (ORF) of 723 bp, which encodes 240 amino acids. It possessed the TNF family signature IIIPDDGIYFVYSQ. After the lipopolysaccharide (LPS) challenge test, a graded tissue-specific expression pattern of TNF-α was observed and there was high expression abundance in the kidney, brain and liver...
February 13, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28168627/disturbances-in-the-ploidy-level-in-the-gynogenetic-sterlet-acipenser-ruthenus
#17
D Fopp-Bayat, K Ocalewicz, M Kucinski, M Jankun, B Laczynska
Artificial mitotic gynogenesis, a chromosome set manipulation, is applied to provide the homozygous progeny with only maternal inheritance. Here, gynogenetic development was induced in the sterlet Acipenser ruthenus L. (Acipenseridae) by activation of the eggs originating from albino females with the UV-irradiated spermatozoa from wild-coloured males, followed by the heat shock applied to suppress the first mitotic division in the haploid zygotes. All experimentally obtained gynogenetic offspring possessed recessive albino coloration...
February 6, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27796943/modified-dna-polymerases-for-pcr-troubleshooting
#18
REVIEW
Marta Śpibida, Beata Krawczyk, Marcin Olszewski, Józef Kur
PCR has become an essential tool in biological science. However, researchers often encounter problems with difficult targets, inhibitors accompanying the samples, or PCR trouble related to DNA polymerase. Therefore, PCR optimization is necessary to obtain better results. One solution is using modified DNA polymerases with desirable properties for the experiments. In this article, PCR troubleshooting, depending on the DNA polymerase used, is shown. In addition, the reasons that might justify the need for modification of DNA polymerases, type of modifications, and links between modified DNA polymerases and PCR efficiency are described...
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27783333/relative-efficacy-of-nicotinamide-treatment-of-a-mouse-model-of-infantile-niemann-pick-c1-disease
#19
Craig A Marshall, Ivan A Borbon, Robert P Erickson
Nicotinamide delivered in drinking water at about 2 g/kg/day significantly prolonged survival and showed a suggestive improvement on memory in the Npc1 (nih) / Npc1 (nih) mouse model of infantile NPC1 disease. It is likely that this role is due to its function as a histone deacetylase (HDAC) inhibitor although another HDAC inhibitor, valproic acid, was without effect. Nicotinamide could also work by preventing/reversing oxidative stress.
February 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/27629806/genomic-findings-in-patients-with-clinical-suspicion-of-22q11-2-deletion-syndrome
#20
Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S Lipska-Ziętkiewicz
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a 1.5 to 3 Mb hemizygous deletion at chromosome 22q11.2, resulting in pathognomic TBX1, CRKL and/or MAPK1 haploinsufficiency. However, there are some individuals with clinical features resembling the syndrome who are eventually diagnosed with genomic disorders affecting other chromosomal regions. The objective of this study was to evaluate the additive value of high-resolution array-CGH testing in the cohort of 41 patients with clinical features of 22q11...
February 2017: Journal of Applied Genetics
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