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https://www.readbyqxmd.com/read/28214377/reciprocal-translocation-of-small-numbers-of-inbred-individuals-rescues-immunogenetic-diversity
#1
Catherine E Grueber, Jolene T Sutton, Sol Heber, James V Briskie, Ian G Jamieson, Bruce C Robertson
Genetic rescue can reduce inbreeding depression and increase fitness of small populations, even when the donor populations are highly inbred. In a recent experiment involving two inbred island populations of the South Island robin, Petroica australis, reciprocal translocations improved microsatellite diversity and individual fitness. While microsatellite loci may reflect patterns of genome-wide diversity, they generally do not indicate the specific genetic regions responsible for increased fitness. We tested the effectiveness of this reciprocal translocation for rescuing diversity of two immunogenetic regions: toll-like receptor (TLR) and major histocompatibility complex (MHC) genes...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28214367/population-genetic-structure-and-adaptation-of-malaria-parasites-on-the-edge-of-endemic-distribution
#2
Craig W Duffy, Hampate Ba, Samuel Assefa, Ambroise D Ahouidi, Yacine B Deh, Abderahmane Tandia, Freja C M Kirsebom, Dominic P Kwiatkowski, David J Conway
To determine whether the major human malaria parasite Plasmodium falciparum exhibits fragmented population structure or local adaptation at the northern limit of its African distribution where the dry Sahel zone meets the Sahara, samples were collected from diverse locations within Mauritania over a range of ~ 1000 kilometres. Microsatellite genotypes were obtained for 203 clinical infection samples from eight locations, and Illumina paired-end sequences were obtained to yield high coverage genome-wide single nucleotide polymorphism (SNP) data for 65 clinical infection samples from four locations...
February 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28214142/-a-case-of-rhinofacial-entomophthoromycosis-in-soudano-sahelian-tropical-climate-in-burkina-faso
#3
S Bamba, V Konsegré, A Zida, I Sangaré, M Cissé, R Beogo, B Diallo, J B Andonaba, R T Guiguemdé
We describe a rhinofacial entomophthoramycosis case in a sexagenarian (65 years old) housewife. She was immunocompetent and resident of Burkina Faso. She consulted both the service of dermatology and the service of stomatology of the Teaching Hospital of Bobo-Dioulasso in February 2016 for a diffuse facial tumefaction evolving over six months. This tumefaction was associated with headaches and a left nasal obstruction. Histological examination of the lesion showed an important and polymorphic inflammatory reaction...
February 14, 2017: Journal de Mycologie Médicale
https://www.readbyqxmd.com/read/28214066/identification-of-g-170g-a-and-g-332g-a-mutations-in-exon-3-of-leptin-gene-bcnl-and-cail-and-their-association-with-semen-quality-and-testicular-dimensions-in-sanjabi-rams
#4
Roya Bakhtiar, Alireza Abdolmohammadi, Hadi Hajarian, Zahra Nikousefat, Davood Kalantar-Neyestanaki
The purpose of this study was to investigate leptin gene polymorphisms and their relationships with the characteristics of sperm quality and testicular dimensions. Semen samples were collected from 96 Sanjabi rams during autumn and spring seasons over two years. Simultaneously, the dimensions of length, width and scrotal circumference were measured. Blood samples were taken from the jugular vein to extract DNA. PCR was performed to amplify a 463bp fragment including exon 3 of leptin gene. PCR products were digested by Bcnl and Cail restriction enzymes to identify 170G>A and 332G>A mutations in exon 3, respectively...
February 4, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/28214017/genetic-risk-factors-for-ovarian-cancer-and-their-role-for-endometriosis-risk
#5
Stefanie Burghaus, Peter A Fasching, Lothar Häberle, Matthias Rübner, Kathrin Büchner, Simon Blum, Anne Engel, Arif B Ekici, Arndt Hartmann, Alexander Hein, Matthias W Beckmann, Stefan P Renner
OBJECTIVE: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions. METHODS: In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis...
February 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28213955/the-skin-barrier-function-gene-spink5-is-associated-with-challenge-proven-ige-mediated-food-allergy-in-infants
#6
Sarah E Ashley, Hern-Tze Tina Tan, Peter Vuillermin, Shyamali C Dharmage, Mimi L K Tang, Jennifer Koplin, Lyle C Gurrin, Adrian Lowe, Caroline Lodge, Anne-Louise Ponsonby, John Molloy, Pamela Martin, Melanie C Matheson, Richard Saffery, Katrina J Allen, Justine A Ellis, David Martino
BACKGROUND: A defective skin barrier is hypothesised to be an important route of sensitisation to dietary antigens, and may lead to food allergy in some children. Missense mutations in the Serine peptidase inhibitor kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. OBJECTIVE: To determine whether genetic variants in and around SPINK5 are associated with IgE mediated food allergy. METHOD: We genotyped 71 'tag' single nucleotide polymorphisms (tag-SNPs) within a region spanning ~263 kilobases (kb) including SPINK5 (~61kb) in n=722 (n=367 food allergic, n=199 food sensitised, tolerant and n=156 non-food allergic controls) 12-month infants (discovery sample) phenotyped for food allergy with the gold standard oral food challenge (OFC)...
February 18, 2017: Allergy
https://www.readbyqxmd.com/read/28213921/maternal-igf1-and-igf1r-polymorphisms-and-the-risk-of-spontaneous-preterm-birth
#7
Jian-Rong He, Yu-Mian Lai, Hui-Hui Liu, Guang-Jian Liu, Wei-Dong Li, Xue-Jiao Fan, Xue-Ling Wei, Xiao-Yan Xia, Ya-Shu Kuang, Xiao-Dan Liu, Nian-Nian Chen, Jin-Hua Lu, Qiao-Zhu Chen, Wei-Bi Mai, Hui-Min Xia, Xiu Qiu
BACKGROUND: The insulin-like growth factor (IGF) pathway was involved in the occurrence of spontaneous preterm birth (SPTB), but little is known regarding the relationship between genetic variations in IGF pathway and the risk of SPTB. We aimed to investigate the associations of IGF1 rs972936 and IGF1 receptor (IGF1R) rs2229765 polymorphisms with SPTB risk in a Chinese population. METHOD: A total of 114 cases of SPTB and 250 controls of term delivery were included from Guangzhou Women and Children's Medical Center, China...
February 18, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28213913/application-of-crs-pcr-rflp-to-identify-cyp1a1-gene-polymorphism
#8
Mingcui Ding, Xiaoran Duan, Xiaolei Feng, Pengpeng Wang, Wei Wang
BACKGROUND: Cytochrome P4501A1 (CYP1A1) is a member of the cytochrome P450 gene family and plays an important role in the metabolism of exogenous and endogenous material. In recent research, it has been shown that its genetic polymorphisms are associated with many diseases. But the isoschizomers such as the BsrDI enzyme required for the detection of this polymorphism are expensive. METHODS: The study used an improved PCR-RFLP method with mismatched base for detection of the single-nucleotide polymorphism rs1048943...
February 18, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28213763/the-lactobacillus-rhamnosus-and-lactobacillus-fermentum-strains-from-human-biotopes-characterized-with-mlst-and-toxin-antitoxin-gene-polymorphism
#9
E U Poluektova, R A Yunes, M V Epiphanova, V S Orlova, V N Danilenko
The diversity of Lb. rhamnosus and Lb. fermentum strains isolated from feces, saliva, and the vaginal cavity of 18-22-year-old healthy women residing in central regions of the Russian Federation has been characterized. The results obtained using multilocus sequence typing were identical to those obtained with the analysis of genetic and genomic polymorphism in TA systems. Different as well as identical Lb. rhamnosus and Lb. fermentum sequence types (ST) were isolated from various parts of the body of the same person...
February 17, 2017: Archives of Microbiology
https://www.readbyqxmd.com/read/28213705/responses-of-soil-methanogens-methanotrophs-and-methane-fluxes-to-land-use-conversion-and-fertilization-in-a-hilly-red-soil-region-of-southern-china
#10
Huifeng Liu, Xing Wu, Zongshan Li, Qing Wang, Dan Liu, Guohua Liu
Changes in land-uses and fertilization are important factors regulating methane (CH4) emissions from paddy soils. However, the responses of soil CH4 emissions to these factors and the underlying mechanisms remain unclear. The objective of this study was to explore the effects of land-use conversion from paddies to orchards and fertilization on soil CH4 fluxes, and the abundance and community compositions of methanogens and methanotrophs. Soil CH4 fluxes were quantified by static chamber and gas chromatography technology...
February 17, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28213629/transcriptome-based-snp-discovery-by-gbs-and-the-construction-of-a-genetic-map-for-olive
#11
Ahmet İpek, Meryem İpek, Sezai Ercişli, Nesrin Aktepe Tangu
Molecular markers located in the genic regions of plants are valuable tools for the identification of candidate genes of economically important traits and consequent use in marker-assisted selection (MAS). In the past, simple sequence repeat markers (SSRs) and single-nucleotide polymorphisms (SNPs) located in expressed sequence tags (ESTs) were developed by sequencing RNA derived from different plant tissues, which involves laborious RNA extraction, mRNA isolation, and cDNA synthesis. In order to develop SNP markers located in olive transcriptomes, we used the recently developed genotyping-by-sequencing (GBS) technique...
February 18, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28213371/polygenic-risk-scores-in-familial-alzheimer-disease
#12
Giuseppe Tosto, Thomas D Bird, Debby Tsuang, David A Bennett, Bradley F Boeve, Carlos Cruchaga, Kelley Faber, Tatiana M Foroud, Martin Farlow, Alison M Goate, Sarah Bertlesen, Neill R Graff-Radford, Martin Medrano, Rafael Lantigua, Jennifer Manly, Ruth Ottman, Roger Rosenberg, Daniel J Schaid, Nicole Schupf, Yaakov Stern, Robert A Sweet, Richard Mayeux
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease. METHODS: Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging-Late-Onset Alzheimer's Disease Family Study), mixed regression models tested the association of familial LOAD with a GRS based on single nucleotide polymorphisms (SNPs) previously associated with LOAD...
February 17, 2017: Neurology
https://www.readbyqxmd.com/read/28212872/correlation-between-gp78-gene-polymorphism-and-coronary-atherosclerotic-heart-disease
#13
Long Wang, Hua-Cheng Li, Jian Zhou, Bo Yang, Cheng-Dong Qiao, Yong-Ming Liu, Zheng Zhang
OBJECTIVE: To study the correlation between GP78 gene polymorphism and blood fat, blood glucose, blood pressure as well as coronary atherosclerotic heart disease. METHODS: 72 patients with coronary atherosclerotic heart disease were selected as the observation group. 68 healthy participants were selected as the control group. The gp78 gene polymorphism of both groups was studied by the method of polymerase chain reaction-restriction fragment length polymorphism (RFLP)...
February 14, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28212870/the-174-g-c-interleukin-6-gene-polymorphism-is-associated-with-angiographic-progression-of-coronary-artery-disease-in-a-4-year-period
#14
Konstantinos Toutouzas, Dimitrios Klettas, Nikolaos Anousakis-Vlachochristou, Konstantinos Melidis, Zeta Azilazian, Maria Asimomiti, Antonios Karanasos, Anastasios Spanos, Eleftherios Tsiamis, Petros Nihoyannopoulos, Dimitris Tousoulis
BACKGROUND: Inflammation is the key process underlying the clinical course of coronary artery disease (CAD). C-reactive protein (CRP) and interleukin-6 (IL-6) participate in the pathophysiology and act as biomarkers. We sought to examine whether known single nucleotide polymorphisms (SNPs) impact the progression of CAD, reflecting higher inflammatory activity. METHODS: We retrospectively evaluated coronary angiographies of patients with already established CAD who were re-investigated for stable/unstable angina after a time interval >12 months...
February 14, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28212842/pathophysiological-consequences-of-receptor-mistraffic-tales-from-the-platelet-p2y12-receptor
#15
Margaret R Cunningham, Riyaad Aungraheeta, Stuart J Mundell
Genetic variations in G protein-coupled receptor (GPCR) genes can disrupt receptor function in a wide variety of human genetic diseases, including platelet bleeding disorders. Platelets are critical for haemostasis with inappropriate platelet activation leading to the development of arterial thrombosis, which can result in heart attack and stroke whilst decreased platelet activity is associated with an increased risk of bleeding. GPCRs expressed on the surface of platelets play key roles in regulating platelet activity and therefore function...
February 14, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28212811/polymorphisms-of-blood-forms-and-in-vitro-metacyclogenesis-of-trypanosoma-cruzi-i-ii-and-iv
#16
Camila Piva Abegg, Ana Paula de Abreu, Juliane Lopes da Silva, Silvana Marques de Araújo, Mônica Lúcia Gomes, Érika Cristina Ferreira, Max Jean de Ornelas Toledo
Trypanosoma cruzi is the etiologic agent of American trypanosomiasis has broad biological and genetic diversity. Remaining to be studied are polymorphisms of the blood forms and metacyclogenesis of different T. cruzi discrete typing units (DTUs). Our goal was to evaluate the relationship between T. cruzi DTUs, the morphology of blood trypomastigotes, and in vitro metacyclogenesis. T. cruzi strains that pertained to DTUs TcI, TcII, and TcIV from different Brazilian states were used. Parameters that were related to the morphology of eight strains were assessed in thin blood smears that were obtained from mice that were inoculated with blood or culture forms, depending on strain...
February 14, 2017: Experimental Parasitology
https://www.readbyqxmd.com/read/28212793/mir-634-is-a-pol-iii-dependent-intronic-microrna-regulating-alternative-polyadenylated-isoforms-of-its-host-gene-prkca
#17
Elvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, Stefano Duga, Giulia Soldà, Rosanna Asselta
BACKGROUND: The protein kinase C alpha (PRKCA) gene, coding for a Th17-cell-selective kinase, shows a complex splicing pattern, with at least 2 stable alternative transcripts characterized by an alternative upstream polyadenylation site. Polymorphisms in this gene were associated with several conditions, including multiple sclerosis, asthma, schizophrenia, and cancer. The presence of a microRNA (miRNA), i.e. miR-634, within intron 15 of the PRKCA gene, suggests the intriguing possibility that this miRNA might play a role in the susceptibility to these pathologies...
February 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28212671/an-adaptive-variant-of-trib2-rs1057001-is-associated-with-higher-expression-levels-of-thermogenic-genes-in-human-subcutaneous-and-visceral-adipose-tissues
#18
Kazuhiro Nakayama, Sadahiko Iwamoto
BACKGROUND: An obesity-related single-nucleotide polymorphism (SNP) of the Tribbles pseudokinase 2 gene (TRIB2) was shown to have underwent adaptive evolution in the last glacial period, suggesting a selective advantage of this SNP in human populations in cold environments. In order to verify this hypothesis, the effect of the TRIB2 SNP on the expression of genes involved in adaptive thermogenesis was tested using messenger RNAs prepared from adipose tissues of Japanese adults. METHODS: Complementary DNA was prepared from subcutaneous adipose tissues (SAT) and visceral adipose tissues (VAT) obtained from 48 Japanese adults...
February 17, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28212655/elderly-onset-hereditary-pulmonary-alveolar-proteinosis-and-its-cytokine-profile
#19
Masayuki Ito, Kazuyuki Nakagome, Hiromitsu Ohta, Keiichi Akasaka, Yoshitaka Uchida, Atsushi Hashimoto, Ayako Shiono, Toshinori Takada, Makoto Nagata, Jun Tohyama, Koichi Hagiwara, Minoru Kanazawa, Koh Nakata, Ryushi Tazawa
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation, and is caused by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling. Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP. We report here the first case of CSF2RA-mutated, elderly-onset hereditary (h) PAP. CASE PRESENTATION: The patient developed dyspnea on exertion, and was diagnosed with PAP at the age of 77 years, based on findings from chest computed tomography scan and bronchoalveolar lavage...
February 17, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28212632/exome-wide-association-study-identifies-genetic-polymorphisms-of-c12orf51-myl2-and-aldh2-associated-with-blood-lead-levels-in-the-general-korean-population
#20
Sang-Yong Eom, Myung Sil Hwang, Ji-Ae Lim, Byung-Sun Choi, Ho-Jang Kwon, Jung-Duck Park, Yong-Dae Kim, Heon Kim
BACKGROUND: Lead (Pb) is a ubiquitous toxic metal present in the environment that poses adverse health effects to humans. Inter-individual variation in blood Pb levels is affected by various factors, including genetic makeup. However, limited data are available on the association between genetic variation and blood Pb levels. The purpose of this study was to identify the genetic markers associated with blood Pb levels in the Korean population. METHODS: The study subjects consisted of 1,483 healthy adults with no history of occupational exposure to Pb...
February 17, 2017: Environmental Health: a Global Access Science Source
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