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Laboratory genetics

Qingsong Liu, Eric Hallerman, Yufa Peng, Yunhe Li
Rice and maize are important cereal crops that serve as staple foods, feed, and industrial material in China. Multiple factors constrain the production of both crops, among which insect pests are an important one. Lepidopteran pests cause enormous yield losses for the crops annually. In order to control these pests, China plays an active role in development and application of genetic engineering (GE) to crops, and dozens of GE rice and GE maize lines expressing insecticidal proteins from the soil bacterium Bacillus thuringiensis (Bt) have been developed...
October 18, 2016: International Journal of Molecular Sciences
Atsuo Ogura
Reproductive engineering techniques are essential for assisted reproduction of animals and generation of genetically modified animals. They may also provide invaluable research models for understanding the mechanisms involved in the developmental and reproductive processes. At the RIKEN BioResource Center (BRC), I have sought to develop new reproductive engineering techniques, especially those related to cryopreservation, microinsemination (sperm injection), nuclear transfer, and generation of new stem cell lines and animals, hoping that they will support the present and future projects at BRC...
October 19, 2016: Experimental Animals
Panayot T Solakov
TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190)...
September 1, 2016: Folia Medica
Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
N Aleksandrova, E Shubina, A Ekimov, T Kodyleva, I Mukosey, N Makarova, E Kulakova, L Levkov, D Trofimov, G Sukhikh
Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos...
October 2016: Gynecological Endocrinology
Peri E Bolton, Lee Ann Rollins, James Brazill-Boast, Kang-Wook Kim, Terry Burke, Simon C Griffith
In socially monogamous species, individuals can use extra-pair paternity and offspring sex allocation as adaptive strategies to ameliorate costs of genetic incompatibility with their partner. Previous studies on domesticated Gouldian finches (Erythrura gouldiae) demonstrated a genetic incompatibility between head colour morphs, the effects of which are more severe in female offspring. Domesticated females use differential sex allocation, and extra-pair paternity with males of compatible head colour, to reduce fitness costs associated with incompatibility in mixed-morph pairings...
October 18, 2016: Journal of Evolutionary Biology
Kannan Sridharan, Rachna Kataria, Drishti Tolani, Shital Bendkhale, Nithya J Gogtay, Urmila M Thatte
INTRODUCTION: CYP2C19 and P2Y12 polymorphisms have been claimed to alter the pharmacodynamic response to clopidogrel. ABCB1 polymorphism has been associated with the efflux of clopidogrel resulting in decreased bioavailability. Due to paucity of data from Indian population, the present study was undertaken to evaluate the association of genetic polymorphisms of CYP2C19, P2Y12, and ABCB1 with inhibition of platelet aggregation (IPA) by clopidogrel. METHODS: Healthy adults (n = 90) of either gender were administered single dose of 300 mg clopidogrel...
July 2016: Indian Journal of Pharmacology
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
Stefan Holdenrieder
Liquid profiling is a traditional concept in laboratory diagnostics using patterns of blood-derived biochemical molecules for disease detection and characterization. Beyond protein and cellular parameters, molecular biomarkers at the DNA, RNA and miRNA level have been developed as promising diagnostic tools in metabolic and malignant diseases as new technologies for ultrasensitive profiling of nucleic acids in blood and body fluids became available. In cancer disease, they are successfully applied for the stratification of patients for individually tailored therapies, treatment monitoring and the sensitive detection of minimal residual disease...
2016: Advances in Experimental Medicine and Biology
Yong-Qing Tong, Bei Liu, Chao-Hong Fu, Hong-Yun Zheng, Jian Gu, Hang Liu, Hong-Bo Luo, Yan Li
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
Hassan Mirmonsef, Hanne D Hornum, John Jensen, Martin Holmstrup
Contaminated soil is a problem throughout the industrialized world, and a significant proportion of these sites are polluted with heavy metals such as copper. Ecological risk assessment of contaminated sites requires ecotoxicological studies with spiked soils as well as in-situ ecological observations. Here, we report laboratory and field assessment of copper toxicity for earthworms at a Danish site (Hygum) exclusively contaminated with an increasing gradient in copper from background to highly toxic levels (>1000mgkg(-1) dry soil)...
October 14, 2016: Ecotoxicology and Environmental Safety
Geber Pena, Christina Michalski, Yong Qin, Robert Donnelly, Ziad Sifri, Anne Mosenthal, David Livingston, Zoltan Spolarics
Sex-related outcome disparities following severe trauma have been demonstrated in human and animal studies however sex hormone status could not fully account for the differences. This study tested whether X-linked cellular mosaicism, which is unique to females, could represent a genetically based mechanism contributing to sex-related immuno-modulation following trauma. Serial blood samples collected for routine laboratory tests were analyzed for ChrX inactivation (XCI) ratios in white blood cells. 39 severely injured (mean ISS 19) female trauma patients on mixed racial and ethnic background were tested for initial (baseline) and trauma-induced changes in XCI-ratios and their associations with severity of injury and clinical outcome...
September 29, 2016: Shock
Martha S Hunter, Peter Asiimwe, Anna G Himler, Suzanne E Kelly
Arthropods commonly carry maternally-inherited intracellular bacterial symbionts that may profoundly influence host biology and evolution. The intracellular symbiont Rickettsia sp. nr. bellii swept rapidly into populations of the sweetpotato whitefly Bemisia tabaci in the southwestern USA. Previous laboratory experiments showed female-bias and fitness benefits were associated with Rickettsia infection, potentially explaining the high frequencies of infection observed in field populations, but the effects varied with whitefly genetic line...
October 17, 2016: Journal of Evolutionary Biology
Utsav Pandey, Andrew S Bell, Daniel W Renner, David A Kennedy, Jacob T Shreve, Chris L Cairns, Matthew J Jones, Patricia A Dunn, Andrew F Read, Moriah L Szpara
The intensification of the poultry industry over the last 60 years facilitated the evolution of increased virulence and vaccine breaks in Marek's disease virus (MDV-1). Full-genome sequences are essential for understanding why and how this evolution occurred, but what is known about genome-wide variation in MDV comes from laboratory culture. To rectify this, we developed methods for obtaining high-quality genome sequences directly from field samples without the need for sequence-based enrichment strategies prior to sequencing...
September 2016: MSphere
Marcela Suárez-Esquivel, Nazareth Ruiz-Villalobos, Amanda Castillo-Zeledón, César Jiménez-Rojas, R Martin Roop Ii, Diego J Comerci, Elías Barquero-Calvo, Carlos Chacón-Díaz, Clayton C Caswell, Kate S Baker, Esteban Chaves-Olarte, Nicholas R Thomson, Edgardo Moreno, Jean J Letesson, Xavier De Bolle, Caterina Guzmán-Verri
Brucellosis is a bacterial infectious disease affecting a wide range of mammals and a neglected zoonosis caused by species of the genetically homogenous genus Brucella. As in most studies on bacterial diseases, research in brucellosis is carried out by using reference strains as canonical models to understand the mechanisms underlying host pathogen interactions. We performed whole genome sequencing analysis of the reference strain B. abortus 2308 routinely used in our laboratory, including manual curated annotation accessible as an editable version through a link at https://en...
2016: Frontiers in Microbiology
Harish Petnikota, Vrisha Madhuri, Sangeet Gangadharan, Indira Agarwal, Belavendra Antonisamy
BACKGROUND: Muscular dystrophies are inherited myogenic disorders characterized by progressive muscle wasting and weakness of variable distribution and severity. They are a heterogeneous group characterized by variable degree of skeletal and cardiac muscle involvement. The most common and the most severe form of muscular dystrophy is DMD. Currently, there is no curative treatment for muscular dystrophies. Several drugs have been studied to retard the progression of the muscle weakness...
September 2016: Indian Journal of Orthopaedics
Nancy Chen, Elissa J Cosgrove, Reed Bowman, John W Fitzpatrick, Andrew G Clark
Understanding the population genetic consequences of declining population size is important for conserving the many species worldwide facing severe decline [1]. Thorough empirical studies on the impacts of population reduction at a genome-wide scale in the wild are scarce because they demand huge field and laboratory investments [1, 2]. Previous studies have demonstrated the importance of gene flow in introducing genetic variation to small populations [3], but few have documented both genetic and fitness consequences of decreased immigration through time in a natural population [4-6]...
October 6, 2016: Current Biology: CB
Diana W Williams, Greg Gibson
A potential application of microbial genetics in forensic science is detection of transfer of the pubic hair microbiome between individuals during sexual intercourse using high-throughput sequencing. In addition to the primary need to show whether the pubic hair microbiome is individualizing, one aspect that must be addressed before using the microbiome in criminal casework involves the impact of storage on the microbiome of samples recovered for forensic testing. To test the effects of short-term storage, pubic hair samples were collected from volunteers and stored at room temperature (∼20°C), refrigerated (4°C), and frozen (-20°C) for 1 week, 2 weeks, 4 weeks, and 6 weeks along with a baseline sample...
October 7, 2016: Forensic Science International. Genetics
Emmanuel Richard, Jean-Marc Blouin, Jerome Harambat, Brigitte Llanas, Stephane Bouchet, Cecile Acquaviva, Renaud De la Faille
We report the case of a 78-year-old patient with late diagnosis of hyperoxaluria type III (PH3). He developed renal failure after nephrectomy for clear cell papillary renal carcinoma and complained of recurrent urolithiasis for some 30 years whose etiology was never identified. Biochemical laboratory investigations of urine and urolithiasis composition revealed marked hyperoxaluria but normal levels of urinary glyceric and glycolic acid as well as stones of idiopathic calcium-oxalate appearance. Furthermore, the dietary survey showed excessive consumption of food supplements containing massive amounts of oxalate precursors...
October 13, 2016: Annals of Clinical Biochemistry
Richard X Davey
BACKGROUND: The misnamed 'vitamin' D is actually the hormone calcitriol (1,25 dihydroxyhydroxyvitamin D). It has a central regulatory role in calcium metabolism, and more widely in the immune system. The prohormone calcifediol (25 hydroxyvitamin D) is more easily measured in the laboratory and is the analyte used in reference interval formulation. Being highly lipid soluble, both calcifediol and calcitriol travel in the bloodstream on carriage proteins, principally on vitamin D binding protein, DBP...
October 13, 2016: Annals of Clinical Biochemistry
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