keyword
MENU ▼
Read by QxMD icon Read
search

Allelic exclusion

keyword
https://www.readbyqxmd.com/read/29778046/evaluation-of-the-microhaplotypes-panel-for-dna-mixture-analyses
#1
Peng Chen, Caiyong Yin, Zheng Li, Yan Pu, Youjia Yu, Peng Zhao, Dexin Chen, Weibo Liang, Lin Zhang, Feng Chen
The identification of a suspect in a DNA mixture typed with the standard short tandem repeat polymorphism (STR) kits has faced challenges. Several improved methods or technologies have been introduced to address this issue. However, some complex situations in the process remain elusive. In the present study, we presented a panel of 26 tiny microhaplotypes, each generating a relatively high (>3.0) effective number of alleles (Ae ) and possessing low (<50 bp) sequence lengths. The average Ae and heterozygosity values among the 9 populations of 26 microhaps were in ranges from 2...
May 12, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29775859/facilitating-complex-dna-mixture-interpretation-by-sequencing-highly-polymorphic-haplotypes
#2
Lev Voskoboinik, Uzi Motro, Ariel Darvasi
Interpretation of complex DNA mixtures is an ongoing challenge in the field of forensic genetics. Commonly used STR markers are quite polymorphic, enabling very high statistical association between a single source DNA profile from a crime scene and a matching suspect. STR typing of low order mixtures with two and three contributors also commonly produces high statistical association for a contributor, using current interpretation software. However higher order mixtures, with four contributors or more, are more challenging...
May 2, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29772597/development-of-a-massively-parallel-sequencing-assay-for-investigating-sequence-polymorphisms-of-15-strs-in-a-chinese-northern-han-population
#3
Qing-Xia Zhang, Meng Yang, Ya-Jiao Pan, Jing Zhao, Bao-Wang Qu, Feng Cheng, Ya-Ran Yang, Zhang-Ping Jiao, Li Liu, Jiang-Wei Yan
Massively parallel sequencing (MPS) has been used in forensic genetics in recent years owing to several advantages, such as MPS can provide precise descriptions of the repeat allele structure and variation in the repeat-flanking regions, increasing the discriminating power among loci and individuals. However, it cannot be fully utilized unless sufficient population data is available for all loci. Thus, there is a pressing need to perform population studies providing a basis for the introduction of MPS into forensic practice...
May 17, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29753151/isolation-of-dna-from-small-amounts-of-elephant-ivory-sampling-the-cementum-with-total-demineralization-extraction
#4
M Winters, A Torkelson, R Booth, C Mailand, Y Hoareau, S Tucker, S K Wasser
Genotyping ivory samples can determine the geographic origin of poached ivory as well as the legality of ivory being sold in ivory markets. We conducted a series of experiments to determine where the DNA is most concentrated in ivory samples and how best to increase DNA yield from groups of samples likely to vary in DNA concentration. We examined variation in DNA amplification success from: the layer(s) of the tusk (cementum and/or dentine) being extracted, demineralization temperature and time, and the concentration of eluates...
April 27, 2018: Forensic Science International
https://www.readbyqxmd.com/read/29750601/allelic-heterogeneity-of-lamin-a-c-phenotypes-and-molecular-mechanism-behind-it
#5
Jelena Perovanovic, Eric P Hoffman
Mutations in the LMNA gene cause a broad range of clinical syndromes that show tissue-restricted abnormalities of post mitotic tissues, such as muscle, nerve, heart, and adipose tissue. Mutations in other nuclear envelope proteins cause clinically overlapping disorders. The majority of mutations are dominant single amino acid changes (toxic protein produced by the single mutant gene), and patients are heterozygous with both normal and abnormal proteins. Experimental support has been provided for different models of cellular pathogenesis in nuclear envelope diseases, including changes in heterochromatin formation at the nuclear membrane (epigenomics), changes in the timing of steps during terminal differentiation of cells, and structural abnormalities of the nuclear membrane...
May 11, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29745686/does-incipient-dementia-explain-normal-cognitive-decline-determinants-lothian-birth-cohort-1921
#6
Ruth A Sibbett, Tom C Russ, Alison Pattie, John M Starr, Ian J Deary
The presence of an apolipoprotein E (APOE) ε4 allele, lower physical fitness, smoking, and lower serum vitamin B-12 have been reported as contributing to poorer cognitive function in LBC1921 at age 79, after adjusting for childhood intelligence. Because incident dementia was not previously ascertained within LBC1921, it is possible that preclinical or unrecognized cases at age 79 influenced findings. Dementia cases arising over approximately 16 years of follow-up were determined by a consensus using evidence from electronic medical records, death certificates, and clinical reviews...
May 10, 2018: Psychology and Aging
https://www.readbyqxmd.com/read/29743380/tailored-adjunctive-cilostazol-therapy-based-on-cyp2c19-genotyping-in-patients-with-acute-myocardial-infarction-the-caldera-gene-study
#7
Koichi Kaikita, Hiromi Yoshimura, Masanobu Ishii, Takashi Kudoh, Yoshihiro Yamada, Eiichiro Yamamoto, Yasuhiro Izumiya, Sunao Kojima, Hideki Shimomura, Ryusuke Tsunoda, Kunihiko Matsui, Hisao Ogawa, Kenichi Tsujita
BACKGROUND: Patients with reduced-function CYP2C19 genotypes on dual antiplatelet therapy (DAPT) with aspirin and clopidogrel show higher clinical risk for acute myocardial infarction (AMI). We investigated the effect of CYP2C19 genotype-tailored adjunctive cilostazol therapy on treatment of AMI.Methods and Results:The study group of 138 patients with suspected AMI were screened for CYP2C19 genotype immediately after percutaneous coronary intervention (PCI) using a SPARTAN RX point-of-care device...
May 8, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29739871/canonical-notch-signaling-directs-the-fate-of-differentiating-neurocompetent-progenitors-in-the-mammalian-olfactory-epithelium
#8
Daniel B Herrick, Zhen Guo, Woochan Jang, Nikolai Schnittke, James E Schwob
The adult olfactory epithelium (OE) has the remarkable capacity to regenerate fully both neurosensory and non-neuronal cell types after severe epithelial injury. Life-long persistence of two stem cell populations supports OE regeneration when damaged: the horizontal basal cells (HBCs) -- dormant and held in reserve, and globose basal cells (GBCs) -- a heterogeneous population most of which are actively dividing. Both populations regenerate all cell types of the OE after injury, but the mechanisms underlying neuronal vs...
May 8, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29720985/molecular-reconstruction-of-an-old-pedigree-of-diploid-and-triploid-hydrangea-macrophylla-genotypes
#9
Peter Hempel, Annette Hohe, Conny Tränkner
The ornamental crop species Hydrangea macrophylla exhibits diploid and triploid levels of ploidy and develops lacecap (wild type) or mophead inflorescences. In order to characterize a H. macrophylla germplasm collection, we determined the inflorescence type and the 2C DNA content of 120 plants representing 43 cultivars. We identified 78 putative diploid and 39 putative triploid plants by flow cytometry. In our collection 69 out of 98 flowering plants produced lacecap inflorescences, whereas 29 plants developed mophead inflorescences...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29719623/validation-and-comparison-of-two-ngs-assays-for-the-detection-of-egfr-t790m-resistance-mutation-in-liquid-biopsies-of-nsclc-patients
#10
Claudia Vollbrecht, Annika Lehmann, Dido Lenze, Michael Hummel
Analysis of circulating cell-free DNA (cfDNA) derived from peripheral blood ("liquid biopsy") is an attractive alternative to identify non-small cell lung cancer (NSCLC) patients with the EGFR T790M mutation eligible for 3rd generation tyrosine kinase inhibitor therapy. We evaluated two PCR-based next generation sequencing (NGS) approaches, one including unique molecular identifiers (UMI), with focus on highly sensitive EGFR T790M mutation detection. Therefore, we extracted and sequenced cfDNA from synthetic plasma samples spiked with mutated DNA at decreasing allele frequencies and from 21 diagnostic NSCLC patients...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29705963/metabolite-diagnosis-of-primary-hyperoxaluria-type-3
#11
Lawrence Greed, Frank Willis, Lilian Johnstone, Sharon Teo, Ruth Belostotsky, Yaacov Frishberg, James Pitt
BACKGROUND: Primary hyperoxaluria type 3 (PH3) is a recently described cause of childhood renal calculi. It results from mutations in the HOGA1 gene and most cases have been diagnosed after clinical ascertainment, exclusion of other genetic hyperoxalurias and mutation testing. Metabolite testing has not been widely applied but holds promise for the rapid screening and diagnosis of patients who are not specifically suspected to have PH3. CASE-DIAGNOSIS/TREATMENT: Two cases presented with renal calculi...
April 28, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29704306/recessive-variants-of-musk-are-associated-with-late-onset-cms-and-predominant-limb-girdle-weakness
#12
David Owen, Ana Töpf, Veeramani Preethish-Kumar, Paolo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias-Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704251/forensic-applicability-of-multi-allelic-indels-with-mononucleotide-homopolymer-structures
#13
Shu Zhang, Qiang Zhu, Xiaogang Chen, Yuancun Zhao, Xiaohong Zhao, Yiwen Yang, Zehua Gao, Ting Fang, Yufang Wang, Ji Zhang
Insertion/deletion polymorphisms (InDels), which possess the characteristics of low mutation rates and a short amplicon size, have been regarded as promising markers for forensic DNA analysis. InDels can be classified as bi-allelic or multi-allelic, depending on the number of alleles. Many studies have explored the use of bi-allelic InDels in forensic applications, such as individual identification and ancestry inference. However, multi-allelic InDels have received relatively little attention. In this study, InDels with 2-6 alleles and a minor allele frequency ≥0...
April 27, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29695979/association-between-tert-rs2736098-polymorphisms-and-cancer-risk-a-meta-analysis
#14
Mi Zhou, Bo Jiang, Mao Xiong, Xin Zhu
Background: Cancer remains a leading cause of death and constitutes an enormous burden on society worldwide. The association between the human telomerase reverse transcriptase (TERT) gene variant rs2736098 polymorphisms and cancer predisposition remain inconclusive. Objective and methods: Databases including Pubmed and Embase were systematically searched from inception to September 15, 2017 to retrieve studies investigating the association between the TERT variant rs2736098 polymorphisms and cancer risk in accordance with previously determined exclusion and inclusion criteria...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29693722/a-fungal-avirulence-factor-encoded-in-a-highly-plastic-genomic-region-triggers-partial-resistance-to-septoria-tritici-blotch
#15
Lukas Meile, Daniel Croll, Patrick C Brunner, Clémence Plissonneau, Fanny E Hartmann, Bruce A McDonald, Andrea Sánchez-Vallet
Cultivar-strain specificity in the wheat-Zymoseptoria tritici pathosystem determines the infection outcome and is controlled by resistance genes on the host side, many of which have been identified. On the pathogen side, however, the molecular determinants of specificity remain largely unknown. We used genetic mapping, targeted gene disruption and allele swapping to characterise the recognition of the new avirulence factor Avr3D1. We then combined population genetic and comparative genomic analyses to characterise the evolutionary trajectory of Avr3D1...
April 25, 2018: New Phytologist
https://www.readbyqxmd.com/read/29684082/unraveling-the-genetic-structure-of-brazilian-commercial-sugarcane-cultivars-through-microsatellite-markers
#16
João Ricardo Vieira Manechini, Juliana Borges da Costa, Bruna Turcatto Pereira, Luciana Aparecida Carlini-Garcia, Mauro Alexandre Xavier, Marcos Guimarães de Andrade Landell, Luciana Rossini Pinto
The Brazilian sugarcane industry plays an important role in the worldwide supply of sugar and ethanol. Investigation into the genetic structure of current commercial cultivars and comparisons to the main ancestor species allow sugarcane breeding programs to better manage crosses and germplasm banks as well as to promote its rational use. In the present study, the genetic structure of a group of Brazilian cultivars currently grown by commercial producers was assessed through microsatellite markers and contrasted with a group of basic germplasm mainly composed of Saccharum officinarum and S...
2018: PloS One
https://www.readbyqxmd.com/read/29682588/an-increased-frequency-in-hla-class-i-alleles-and-haplotypes-suggests-genetic-susceptibility-to-influenza-a-h1n1-2009-pandemic-a-case-control-study
#17
Ramcés Falfán-Valencia, Arun Narayanankutty, Juan M Reséndiz-Hernández, Gloria Pérez-Rubio, Alejandra Ramírez-Venegas, Karol J Nava-Quiroz, Nora E Bautista-Félix, Gilberto Vargas-Alarcón, Manuel D J Castillejos-López, Andrés Hernández
Background: The influenza A H1N1/09 pandemic infected a small number of exposed individuals, which suggests the involvement of genetic factors. There are scarce data available on classical HLA class I association with the influenza A H1N1/09 pandemic. Methods: We analyzed the frequency of classical HLA class I alleles and haplotypes in A H1N1/09 influenza in a case-control study including 138 influenza patients (INF-P) and 225 asymptomatic healthy contacts (INF-C) simultaneously recruited...
2018: Journal of Immunology Research
https://www.readbyqxmd.com/read/29678850/cryopreservation-of-genotyped-abo-subgroup-rbcs-for-quality-assurance-of-abo-grouping-reagents
#18
Sinyoung Kim, Sungwook Song, Hyun Ok Kim
BACKGROUND: Quality assurance of newly developed or manufactured blood grouping reagents with reagent red blood cells (RBCs) is crucial in the process of product approval by governmental agency. However, RBCs with rare blood group are not easily available in the fresh state. We investigated the feasibility of cryopreserved and genotyped ABO subgroup RBC reagents for quality assurance purpose. METHODS: We obtained RBCs from 10 volunteers with ABO subgroup phenotypes...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29678301/molecular-pathways-for-antigenic-peptide-generation-by-er-aminopeptidase-1
#19
Anastasia Mpakali, Zachary Maben, Lawrence J Stern, Efstratios Stratikos
Endoplasmic Reticulum aminopeptidase 1 (ERAP1) is an intracellular enzyme that can generate or destroy potential peptide ligands for MHC class I molecules. ERAP1 activity influences the cell-surface immunopeptidome and epitope immunodominance patterns but in complex and poorly understood manners. Two main distinct pathways have been proposed to account for ERAP1's effects on the nature and quantity of MHCI-bound peptides: i) ERAP1 trims peptides in solution, generating the correct length for binding to MHCI or overtrimming peptides so that they are too short to bind, and ii) ERAP1 trims peptides while they are partially bound onto MHCI in manner that leaves the peptide amino terminus accessible...
April 17, 2018: Molecular Immunology
https://www.readbyqxmd.com/read/29676359/molecular-genetics-of-bcr-abl1-negative-myeloproliferative-neoplasms-in-india
#20
Nikhil Rabade, P G Subramanian, Rohan Kodgule, Goutham Raval, Swapnali Joshi, Shruti Chaudhary, Russel Mascarenhas, Prashant Tembhare, Sumeet Gujral, Nikhil Patkar
Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center...
April 2018: Indian Journal of Pathology & Microbiology
keyword
keyword
88477
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"