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High resolution melting

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https://www.readbyqxmd.com/read/30097005/high-resolution-melting-curve-analysis-enables-rapid-and-reliable-detection-of-g6pd-variants-in-heterozygous-females
#1
Md Tarikul Islam, Suprovath Kumar Sarker, Shezote Talukder, Golam Sarower Bhuyan, Asifuzzaman Rahat, Nafisa Nawal Islam, Hasan Mahmud, Mohammad Amir Hossain, A K M Muraduzzaman, Jakia Rahman, Syeda Kashfi Qadri, Mohammod Shahidullah, Mohammad Abdul Mannan, Sarabon Tahura, Manzoor Hussain, Narayan Saha, Shahida Akhter, Nazmun Nahar, Firoza Begum, Tahmina Shirin, Sharif Akhteruzzaman, Syed Saleheen Qadri, Firdausi Qadri, Kaiissar Mannoor
BACKGROUND: Like glucose-6-phosphate dehydrogenase (G6PD) deficient hemizygous males and homozygous females, heterozygous females could also manifest hemolytic crisis, neonatal hyperbilirubinemia or kernicterus upon exposure to oxidative stress induced by certain foods such as fava beans, drugs or infections. Although hemizygous males and homozygous females are easily detected by conventional G6PD enzyme assay method, the heterozygous state could be missed by the conventional methods as the mosaic population of both normal and deficient RBCs circulates in the blood...
August 10, 2018: BMC Genetics
https://www.readbyqxmd.com/read/30096357/validation-of-high-resolution-melting-analysis-as-a-diagnostic-tool-for-endothelin-receptor-b-mutation-in-american-paint-horses-and-allele-frequency-estimation
#2
Peres Ramos Badial, Raffaella Bertoni Cavalcanti Teixeira, Diego José Zanzarini Delfiol, Ligia Souza Lima Silveira da Mota, Alexandre Secorun Borges
Overo lethal white foal syndrome (OLWFS) is a genetic disorder caused by a dinucleotide mutation in the endothelin receptor type B (EDNRB) gene leading to the death of affected foals shortly after birth. The use of rapid and reliable genetic testing is imperative for the early diagnosis of the mutation avoiding, therefore, either additional suffering or the production of affected animals. In the present study, we developed and validated a high-resolution melting (HRM) genotyping assay to detect the OLWFS causative mutation, and we also determined the frequency of heterozygotes among American Paint horses in Brazil...
August 7, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/30087140/a-culture-shift-broad-bacterial-detection-identification-and-antimicrobial-susceptibility-testing-directly-from-whole-blood
#3
Nadya Andini, Anne Hu, Luming Zhou, Steven Cogill, Tza-Huei Wang, Carl T Wittwer, Samuel Yang
BACKGROUND: The time required for bloodstream pathogen detection, identification (ID), and antimicrobial susceptibility testing (AST) does not satisfy the acute needs of disease management. Conventional methods take up to 3 days for ID and AST. Molecular diagnostics have reduced times for ID, but their promise to supplant culture is unmet because AST times remain slow. We developed a combined quantitative PCR (qPCR)-based ID+AST assay with sequential detection, ID, and AST of leading nosocomial bacterial pathogens...
August 7, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/30085422/analysis-of-kras-nras-braf-and-pik3ca-mutations-could-predict-metastases-in-colorectal-cancer-a-preliminary-study
#4
Kamila Wojas-Krawczyk, Ewa Kalinka-Warzocha, Katarzyna Reszka, Marcin Nicoś, Justyna Szumiło, Sławomir Mańdziuk, Katarzyna Szczepaniak, Dorota Kupnicka, Remigiusz Lewandowski, Janusz Milanowski, Paweł Krawczyk
BACKGROUND: Colorectal cancer (CRC) is usually diagnosed in the metastatic stage, when chemotherapy and molecularly-targeted therapies, instead of surgery, play the most important therapeutic role. Application of anti-epidermal growth factor receptor (EGFR) therapy requires the analysis of RAS mutation status and only RAS wild-type (wt) patients are qualified for the therapy. OBJECTIVES: The objective of this study was to analyze driver mutations in KRAS, NRAS, BRAF, and PIK3CA genes in CRC patients...
August 7, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/30085150/new-snp-markers-to-identify-culex-complex-species-diptera-culicidae-by-high-resolution-dna-melting-analysis
#5
Sungshil Kim, Rahmi Lee, Cheolho Sim
The members from Culex pipiens complex are the primary vector of various arboviruses including West Nile virus and Eastern equine encephalitis in the United States. Within Cx. pipiens complex, there are three biotypes that differ largely in habitat, bloodmeal preference, mating behavior, and overwintering strategy. The three biotypes are Cx. pipiens form molestus (F.) (Diptera: Culicidae), Cx. pipiens f. pipiens (L.) (Diptera: Culicidae), and Cx. pipiens quinquefasciatus (Diptera: Culicidae) (also known as Cx...
August 6, 2018: Journal of Medical Entomology
https://www.readbyqxmd.com/read/30078824/two-polymorphisms-rs2046210-and-rs3803662-are-associated-with-breast-cancer-risk-in-a-vietnamese-case-control-cohort
#6
Nguyen Thi Ngoc Thanh, Nguyen Thi Tuyet Lan, Phan Thanh Phat, Nguyen Dien Thanh Giang, Nguyen Thi Hue
Breast cancer is the most common cancer in women worldwide. Breast tumorigenesis encompasses both extrinsic and intrinsic factors. Among intrinsic aspects, the appearance of DNA variation can cause genetic instability, which may lead to carcinogenesis. Genome-wide association studies have found several potential breast cancer-associated single nucleotide polymorphisms (SNPs) in many different populations. Among these, seven (rs2046210, rs1219648, rs3817198, rs3803662, rs889312, rs10941679 and rs13281615) have been shown to be significantly associated with breast cancer risk in various populations including those very similar to the Vietnamese...
August 6, 2018: Genes & Genetic Systems
https://www.readbyqxmd.com/read/30067814/the-potential-of-aerosol-edna-sampling-for-the-characterisation-of-commercial-seed-lots
#7
Lorretha C Emenyeonu, Adam E Croxford, Mike J Wilkinson
Seed shipments, silos and storage houses often contain weed seeds or seeds of restricted crops such as undeclared genetically modified (GM) varieties. Random sub-sampling is the favoured approach to detect unwanted biological materials in seed lots but is prohibitively expensive or else ineffective for the huge volumes of seeds moved in commercial operations. This study uses maize and cowpea seed admixtures as an exemplar to evaluate the feasibility of using aerosol sampling of "seed dust" as an alternative to seed sub-sampling...
2018: PloS One
https://www.readbyqxmd.com/read/30066744/high-resolution-topography-for-digital-terrain-model-dtm-in-keller-peninsula-maritime-antarctica
#8
Adriano L Schünemann, Pedro Henrique A Almeida, André Thomazini, Elpídio I Fernandes Filho, Márcio R Francelino, Carlos E G R Schaefer, Antonio Batista Pereira
High resolution topography (HRT) surveys is an important tool to model landscapes, especially in zones subjected to strong environmental changes, such as Antarctica, where landform is highly influenced by cryoclasty and permafrost melting. The aim of this work was to obtain a high accurate DTM for Keller Peninsula, Maritime Antarctica. The survey study was assessed in the 2014/2015 and 2015/2016 during the austral summer, by using Terrestrial Laser Scanner (TLS). In order to cover 8 km² of the Peninsula, the TLS equipment was installed in 81 different points...
July 26, 2018: Anais da Academia Brasileira de Ciências
https://www.readbyqxmd.com/read/30056989/high-molecular-prevalence-of-leishmania-in-phlebotomine-sand-flies-fed-on-chicken-blood-in-brazil
#9
Tauana de Sousa Ferreira, Renata Velôzo Timbó, Thaís T C Minuzzi-Souza, Douglas de Almeida Rocha, Mariana Neiva, Joana de Albuquerque Ribeiro, Paulo Silva de Almeida, Mariana Hecht, Nadjar Nitz, Rodrigo Gurgel-Gonçalves
Leishmaniases are endemic in Brazil, where Leishmania infantum has been detected in humans, dogs, cats, and phlebotomine vectors. Monitoring synanthropic vector populations is critical for leishmaniasis control-surveillance in such transmission-prone areas. Here, a suite of molecular approaches were used to assess Leishmania infection prevalence and to identify blood-meal sources in a large sample of sand flies collected in anthropic environments of a Leishmania-transmission area in Mato Grosso do Sul State (Rio Verde de Mato Grosso municipality), Central-West Brazil...
August 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/30050913/multi-target-strategy-for-pan-foot-and-mouth-disease-virus-fmdv-detection-a-combination-of-sequences-analysis-in-silico-predictions-and-laboratory-diagnostic-evaluation
#10
Liliam Rios, Carmen L Perera, Liani Coronado, Damarys Relova, Ana M Álvarez, Llilianne Ganges, Heidy Díaz de Arce, José I Núñez, Lester J Pérez
Foot-and-mouth disease (FMD) is a highly contagious viral disease affecting cloven-hoofed animals that causes severe economic losses. The disease is characterized by a vesicular condition and it cannot be differentiated from other vesicular diseases. Therefore, laboratory confirmation of any suspected FMD case is compulsory. Despite viral isolation in cell cultures has been considered for many years as the gold standard for FMD diagnosis, the advantages of real-time reverse transcription polymerase chain reaction (rRT-PCR) technology have motivated its use directly in clinical specimens for FMD diagnosis...
2018: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/30050886/association-of-polymorphism-in-fatty-acid-desaturase-gene-with-the-risk-of-type-2-diabetes-in-iranian-population
#11
Vahid Mansouri, Shaghayegh Haghjooy Javanmard, Manijeh Mahdavi, Mohammad Hasan Tajedini
Background: The type 2 diabetes is one of the most common autoimmune diseases. Due to a key role in the metabolism of unsaturated fatty acids such as arachidonic acid, one of the most important precursors of immunity mediators, fatty acid desaturase (FADS) genes could have an important impact in the development of type 2 diabetes. Materials and Methods: This study aimed to determine the relationship between polymorphisms rs174537 in FADS1 gene and rs174575 in FADS2 gene with type 2 diabetes in Iranian population...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/30046413/the-shortcut-strategy-for-beta-thalassemia-prevention
#12
Narutchala Suwannakhon, Khajohnsilp Pongsawatkul, Teerapat Seeratanachot, Khwanruedee Mahingsa, Arunee Pingyod, Wanwipa Bumrungpakdee, Torpong Sanguansermsri
We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified...
May 14, 2018: Hematology Reports
https://www.readbyqxmd.com/read/30044434/inherited-and-acquired-decrease-in-complement-receptor-1-cr1-density-on-red-blood-cells-associated-with-high-levels-of-soluble-cr1-in-alzheimer-s-disease
#13
Rachid Mahmoudi, Sarah Feldman, Aymric Kisserli, Valérie Duret, Thierry Tabary, Laurie-Anne Bertholon, Sarah Badr, Vignon Nonnonhou, Aude Cesar, Antoine Neuraz, Jean Luc Novella, Jacques Henri Max Cohen
The complement receptor 1 ( CR1 ) gene was shown to be involved in Alzheimer's disease (AD). We previously showed that AD is associated with low density of the long CR1 isoform, CR1*2 (S). Here, we correlated phenotype data (CR1 density per erythrocyte (CR1/E), blood soluble CR1 (sCR1)) with genetic data (density/length polymorphisms) in AD patients and healthy controls. CR1/E was enumerated using flow cytometry, while sCR1 was quantified by ELISA. CR1 polymorphisms were assessed using restriction fragment length polymorphism (RFLP), pyrosequencing, and high-resolution melting PCR...
July 25, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30040829/brca1-founder-mutations-and-beyond-in-the-polish-population-a-single-institution-brca1-2-next-generation-sequencing-study
#14
Artur Kowalik, Monika Siołek, Janusz Kopczyński, Kamila Krawiec, Joanna Kalisz, Sebastian Zięba, Beata Kozak-Klonowska, Elżbieta Wypiórkiewicz, Jowita Furmańczyk, Ewelina Nowak-Ozimek, Małgorzata Chłopek, Paweł Macek, Jolanta Smok-Kalwat, Stanisław Góźdź
Hereditary mutations in BRCA1/2 genes increase the risk of breast cancer by 60-80% and ovarian cancer by about 20-40% in female carriers. Detection of inherited mutations in asymptomatic carriers allows for the implementation of appropriate preventive measures. BRCA1/2 genotyping is also important for poly(adenosine diphosphate)-ribose polymerase (PARP) inhibitor administration. This work addresses the need for next-generation sequencing (NGS) technology for the detection of BRCA1/2 mutations in Poland where until recently mostly founder mutations have been tested, and whether BRCA diagnostics should be extended beyond the panel of founder mutations in this population...
2018: PloS One
https://www.readbyqxmd.com/read/30036587/the-machado-joseph-disease-associated-expanded-form-of-ataxin-3-overexpression-purification-and-preliminary-biophysical-and-structural-characterization
#15
Miriam G G Contessotto, Luciana K Rosselli-Murai, Maria Cristina C Garcia, Cristiano L P Oliveira, Iris L Torriani, Iscia Lopes-Cendes, Marcelo J Murai
An expansion of the polyglutamine (polyQ) tract within the deubiquitinase ataxin-3 protein is believed to play a role in a neurodegenerative disorder. Ataxin-3 contains a Josephin catalytic domain and a polyQ tract that renders it intrinsically prone to aggregate, and thus full-length protein is difficult to characterize structurally by high-resolution methods. We established a robust protocol for expression and purification of wild-type and expanded ataxin-3, presenting 19Q and 74Q, respectively. Both proteins are monodisperse as assessed by analytical size exclusion chromatography...
July 20, 2018: Protein Expression and Purification
https://www.readbyqxmd.com/read/30026822/aberrant-methylation-of-fat4-and-sox11-in-peripheral-blood-leukocytes-and-their-association-with-gastric-cancer-risk
#16
Hongxu Sun, Haibo Zhou, Yan Zhang, Jie Chen, Xu Han, Di Huang, Xiyun Ren, Yunhe Jia, Qing Fan, Wenjing Tian, Yashuang Zhao
Background: Aberrant DNA methylation, especially tumor suppressor gene hypermethylation, is a well-recognized biomarker of initial tumorogenesis stages. FAT4 and SOX11 are putative tumor suppressor genes and can be down-regulated by hypermethylation in various cancers tissues. However, in peripheral blood leukocytes, the association between these two genes methylation status, as well as the effects of gene-environment interactions, and gastric cancer (GC) risk remain unclear. Methods: A hospital-based case-control study including 375 cases and 394 controls was conducted...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/30019961/toxoplasma-gondii-lineages-circulating-in-slaughtered-industrial-pigs-and-potential-risk-for-consumers
#17
Alberto Vergara, Marianna Marangi, Tiziana Caradonna, Luca Pennisi, Domenico Paludi, Roberto Papini, Adriana Ianieri, Annunziata Giangaspero, Giovanni Normanno
Toxoplasma gondii is a cosmopolitan zoonotic protozoan parasite, and the consumption of raw or undercooked pig meat is one of the most important sources of T. gondii infection. Three predominant lineages, types I, II, and III, are widespread in Europe. Although still poorly understood, a relationship between each type and the severity of illness represents a public health issue. To gain further knowledge of the genotypes in circulation and of the potential risk for consumers, one heart sample and one diaphragm sample (206 total) were taken from each of 103 pig carcasses at an abattoir in Italy...
August 2018: Journal of Food Protection
https://www.readbyqxmd.com/read/30015934/prevalence-of-hyperuricemia-among-the-chinese-population-of-the-southeast-coastal-region-and-association-with-single-nucleotide-polymorphisms-in-urate%C3%A2-anion-exchanger-genes-slc22a12-abcg2-and-slc2a9
#18
Xinran Yang, Yingxiu Xiao, Kaixi Liu, Xiaoyang Jiao, Xiaozhe Lin, Yongni Wang, Qiaoxin Zhang
Genome‑wide association studies identified that a series of genes, including solute carrier family (SLC) 2 member 9 (SLC2A9), SLC 22 member 12 (SLC22A12) and ATP‑binding cassette sub‑family G member 2 (ABCG2) polymorphisms were associated with serum uric acid (SUA) levels in the present study. High incidence rates of hyperuricemia were reported in the Chinese population of the southeast coastal region; however, no evidence has confirmed the genetic association with SUA levels in this region. The present study aimed to investigate the association between uric acid levels and hyperuricemia, and genotypes of the Chinese population of the southeast coastal region...
September 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/30012182/amino-acid-permease-3-aap3-coding-sequence-as-a-target-for-leishmania-identification-and-diagnosis-of-leishmaniases-using-high-resolution-melting-analysis
#19
Karl Erik Müller, Ricardo Andrade Zampieri, Juliana Ide Aoki, Sandra Marcia Muxel, Audun Helge Nerland, Lucile Maria Floeter-Winter
BACKGROUND: The leishmaniases comprise a spectrum of clinical manifestations caused by different species of Leishmania. Identification of species is important for diagnosis, treatment and follow-up management. However, there is no gold standard for species identification. High resolution melting analysis (HRM) offers a possibility to differentiate Leishmania species without the need for processing of the PCR-product. The amino acid permease 3 (aap3) gene is an exclusive target for trypanosomatids and is conserved among Leishmania spp...
July 16, 2018: Parasites & Vectors
https://www.readbyqxmd.com/read/30010178/the-assessment-of-gwas-identified-polymorphisms-associated-with-infertility-risk-in-polish-women-with-endometriosis
#20
Maciej Osiński, Adrianna Mostowska, Przemyslaw Wirstlein, Ewa Wender-Ożegowska, Paweł Piotr Jagodziński, Małgorzata Szczepańska
OBJECTIVES: Genome-wide association studies in patients with endometriosis revealed ten significant single nucleo-tide polymorphisms (SNPs) in the Caucasian population, which include rs12700667 near NFE2L3, rs12037376 in WNT4, rs7521902 near WNT4, rs13394619 in GREB1, rs10859871 near VEZT, rs1537377 near CDKN2B-AS1, rs4141819 near ETAA1, rs7739264 near ID4, rs1519761 near RND3 and rs6542095 near IL1A. MATERIAL AND METHODS: We replicated ten polymorphisms among infertile women with endometriosis (n = 315) and healthy fertile women (n = 406) in the Polish Caucasian population...
2018: Ginekologia Polska
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