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https://www.readbyqxmd.com/read/29786878/dietary-omega-3-fatty-acids-differentially-impact-acute-ethanol-responsive-behaviors-and-ethanol-consumption-in-dba-2j-versus-c57bl-6j-mice
#1
Jennifer T Wolstenholme, M Scott Bowers, Alexander B Pais, A Christian Pais, Ryan S Poland, Justin L Poklis, Andrew G Davies, Jill C Bettinger
BACKGROUND: Complex interactions between environmental and genetic factors influence the risk for developing alcohol use disorder (AUD) in humans. To date, studies of the impact of environment on AUD risk have primarily focused on psychological characteristics or on the effects of developmental exposure to ethanol. We recently observed that modifying levels of the long-chain ω-3 (LC ω-3) fatty acid, eicosapentaenoic acid (EPA), alters acute physiological responses to ethanol in C. elegans...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786868/cis-acting-allele-specific-expression-ase-differences-induced-by-alcohol-and-impacted-by-sex-as-well-as-parental-genotype-of-origin
#2
Chiao-Ling Lo, Lawrence Lumeng, Richard L Bell, Tiebing Liang, Amy C Lossie, Williams M Muir, Feng C Zhou
BACKGROUND: Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low alcohol drinking (HAD and LAD) rat lines. Here we report allele specific expression (ASE) differences, between the HAD2 and LAD2 rat lines. METHODS: The HAD2 and LAD2 rats which have been sequenced were reciprocally crossed to generate 10 litters of F1 progeny...
May 22, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29786180/-bartter-syndrome-severe-rare-orphan-kidney-disease-a-step-towards-therapy-through-pharmacogenetic-and-epidemiological-studies
#3
EDITORIAL
Elena Conte, Paola Imbrici, Dalila Sahbani, Antonella Liantonio, Diana Conte
Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29786123/genetic-variations-in-lta-gene-and-pdcd1-gene-and-intrauterine-infection-of-hepatitis-b-virus-a-case-control-study-in-china
#4
Tingting Liu, Zhihua Wan, Songxu Peng, Yanni Wang, Hongyan Chen, Xiu Li, Yukai Du
Intrauterine infection with hepatitis B virus (HBV) has been suggested to accounting for most cases of chronic HBV infection, which cannot be blocked by combined immunoprophylaxis. The fact that the genetic background might impact the susceptibility to intrauterine infection of HBV has been identified by recent researches. A case-control study included sixty-nine HBsAg-positive mother-newborn pairs with intrauterine infection as cases compared to 138 mother-newborn pairs without intrauterine infection as controls...
May 21, 2018: Amino Acids
https://www.readbyqxmd.com/read/29786102/the-ucp2-866g-a-ala55val-and-ucp3-55c-t-polymorphisms-are-associated-with-premature-coronary-artery-disease-and-cardiovascular-risk-factors-in-mexican-population
#5
Ricardo Gamboa, Claudia Huesca-Gómez, Vanessa López-Pérez, Rosalinda Posadas-Sánchez, Guillermo Cardoso-Saldaña, Aida Medina-Urrutia, Juan Gabriel Juárez-Rojas, María Elena Soto, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
We examined the role of UCP gene polymorphisms as susceptibility markers for premature coronary artery disease (pCAD). The UCP2 Ala55Val (C/T rs660339), UCP2 -866G/A (rs659366), and UCP3 -55C/T (rs1800849) polymorphisms were genotyped in 948 patients with pCAD, and 763 controls. The distribution of the UCP2 A55V (C/T rs660339) and UCP3 -55 (rs1800849) was similar in patients and controls. However, under a recessive model, the UCP2 -866 (rs659366) A allele was associated with increased risk of developing pCAD (OR = 1...
May 21, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29785970/phenotypic-and-molecular-characteristics-of-androgen-insensitivity-syndrome-patients
#6
Shi-Min Yuan, Ya-Nan Zhang, Juan Du, Wen Li, Chao-Feng Tu, Lan-Lan Meng, Ge Lin, Guang-Xiu Lu, Yue-Qiu Tan
Androgen insensitivity syndrome (AIS), an X-linked recessive genetic disorder of sex development, is caused by mutations in the androgen receptor (AR) gene, and is characterized by partial or complete inability of specific tissues to respond to androgens in individuals with the 46,XY karyotype. This study aimed to investigate AR gene mutations and to characterize genotype-phenotype correlations. Ten patients from unrelated families, aged 2-31 years, were recruited in the study. Based on karyotype, altered hormone profile, and clinical manifestations, nine patients were preliminarily diagnosed with complete AIS and one with partial AIS...
May 18, 2018: Asian Journal of Andrology
https://www.readbyqxmd.com/read/29785925/comparison-of-two-genotyping-methods-for-distinguishing-recrudescence-from-reinfection-in-antimalarial-drug-efficacy-effectiveness-trials
#7
Joseph R M Fulakeza, Rachel L Banda, Trancizeo R Lipenga, Dianne J Terlouw, Standwell C Nkhoma, Eva Maria Hodel
Genotyping of allelic variants of Plasmodium falciparum merozoite surface proteins 1 and 2 ( msp-1 and msp-2 ), and the glutamate-rich protein is the gold standard for distinguishing reinfections from recrudescences in antimalarial drug trials. We compared performance of the recently developed 24-single-nucleotide polymorphism (SNP) Barcoding Assay against msp-1 and msp-2 genotyping in a cluster-randomized effectiveness trial of artemether-lumefantrine and dihydroartemisinin-piperaquine in Malawi. Rates of recrudescence and reinfection estimated by the two methods did not differ significantly (Fisher's exact test; P = 0...
May 21, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29785901/association-of-snp-and-str-polymorphisms-of-insulin-like-growth-factor-2-receptor-igf2r-gene-with-milk-traits-in-holstein-friesian-cows
#8
Marta Dux, Magdalena Muranowicz, Eulalia Siadkowska, Dagmara Robakowska-Hyżorek, Krzysztof Flisikowski, Emilia Bagnicka, Lech Zwierzchowski
The objective of the study reported in this Research Communication was to investigate the association of polymorphisms in the insulin-like growth factor receptor 2 (IGF2R) gene with milk traits in 283 Polish Holstein-Friesian (PHF) cows from the IGAB PAS farm in Jastrzębiec. IGF2R regulates the availability of biologically active IGF2 which is considered as a genetic marker for milk or meat production in farm animals. Two novel genetic polymorphisms were identified in the bovine IGF2R gene: a polymorphic TG-repeat in intron 23 (g...
May 2018: Journal of Dairy Research
https://www.readbyqxmd.com/read/29785888/the-impact-of-oprm1-s-genetic-polymorphisms-on-methadone-maintenance-treatment-in-opioid-addicts-a-systematic-review
#9
Bilel Oueslati, Olfa Moula, Rim Ghachem
AIM: Methadone is a long-acting opioid receptor agonist. It is prescribed to patients with opioid-related use disorders. The OPRM1 gene encodes for methadone's main receptor. It appears that polymorphisms in OPRM1 may affect the efficacy of methadone maintenance treatment (MMT). OBJECTIVE: Our purpose was to identify all relevant published papers dealing with the impact ofOPRM1's SNPs  on MMT's efficacy and to summarize results in order to evaluate the relevance of conducting pretherapeutic genotyping in opioid addicts prior to the onset of MMT...
May 22, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29785881/variants-in-genes-coding-for-glutathione-s-transferases-and-asthma-outcomes-in-children
#10
Steve Turner, Ben Francis, Nuha Wani, Susanne Vijverberg, Maria Pino-Yanes, Somnath Mukhopadhyay, Roger Tavendale, Colin Palmer, Esteban G Burchard, Simon Kebede Merid, Erik Melén, Anke H Maitland-van der Zee, On Behalf Of The Pharmacogenomics In Childhood Asthma Consortium
Our hypothesis was that children with mutations in genes coding for glutathione S-transferases (GST) have worse asthma outcomes compared with children with active type genotype. Data were collected in five populations. The rs1695 single nucleotide polymorphism (GSTP1) was determined in all cohorts (3692 children) and GSTM1 and GSTT1 null genotype were determined in three cohorts (2362 children). GSTT1 null (but not other genotypes) was associated with a minor increased risk for asthma attack and there were no significant associations between GST genotypes and asthma severity...
May 22, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29785705/association-of-gabaa-receptor-gene-with-epilepsy-syndromes
#11
Musadiq Ahmad Bhat, Sameer Ahmad Guru, Rashid Mir, Ajaz Ahmad Waza, Mariyam Zuberi, Mamta Pervin Sumi, Shaam Bodeliwala, Vinod Puri, Alpana Saxena
GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively. GABAA is considered as one of the most important proteins and has found to play an important role in many neurological disorders. We explored the association of GABAA receptor gene mutation/SNPs in JME and LGS patients in Indian population. A total of 100 epilepsy syndrome patients (50 JME and 50 LGS) and 100 healthy control subjects were recruited and analyzed by AS-PCR and RFLP-PCR techniques...
May 21, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#12
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785637/frzb1-rs2242070-polymorphisms-is-associated-with-brick-tea-type-skeletal-fluorosis-in-kazakhs-but-not-in-tibetans-china
#13
Yanmei Yang, Qiaoshi Zhao, Yang Liu, Xiaona Liu, Yanru Chu, Huazhu Yan, Yumei Fan, Simeng Huo, Limei Wang, Qun Lou, Ning Guo, Dianjun Sun, Yanhui Gao
Skeletal fluorosis is a metabolic bone and joint disease caused by excessive accumulation of fluoride in the bones. Compared with Kazakhs, Tibetans are more likely to develop moderate and severe brick tea type skeletal fluorosis, although they have similar fluoride exposure. Single nucleotide polymorphisms (SNPs) in frizzled-related protein (FRZB) have been associated with osteoarthritis, but their association with the risk of skeletal fluorosis has not been reported. In this paper, we investigated the association of three SNPs (rs7775, rs2242070 and rs9288087) in FRZB1with brick tea type skeletal fluorosis risk in a cross-sectional case-control study conducted in Sinkiang and Qinghai, China...
May 21, 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29785615/molecular-characterization-of-proton-beam-induced-mutations-in-soybean-using-genotyping-by-sequencing
#14
Woon Ji Kim, Jaihyunk Ryu, Juhyun Im, Sang Hun Kim, Si-Yong Kang, Jeong-Hee Lee, Sung-Hwan Jo, Bo-Keun Ha
Proton beam irradiation is a next-generation technique to develop mutant crop varieties. The mutagenic effects and molecular mechanisms of radiation are important multi-disciplinary research subjects. This study was conducted to investigate the types of mutations induced in the soybean genome by proton beam irradiation. In total, 22 plants, including 10 M2 plants treated with proton beam irradiation at 118 and 239 Gy, each, and two wild-type plants (Daepung) were sequenced by genotyping-by-sequencing (GBS)...
May 21, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29785531/prevalent-genotypes-of-methylenetetrahydrofolate-reductase-mthfr-in-recurrent-miscarriage-and-recurrent-implantation-failure
#15
Yuanchang Zhu, Tonghua Wu, Lijun Ye, Guangui Li, Yong Zeng, Yaou Zhang
OBJECTIVE: To evaluate the association of two common methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with recurrent miscarriage (RM) and repeated implantation failure (RIF) METHODS: The study comprised of 521 patients, with a history of RM (n = 370) or RIF (n = 151). One hundred forty-four women with fallopian tube blockages who had successfully conceived after the first in vitro fertilization embryo transfer treatment served as the control group. The MTHFR alleles, genotypes, and haplotypes were assessed in different groups...
May 21, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29785398/marker-assisted-introgression-of-saltol-qtl-enhances-seedling-stage-salt-tolerance-in-the-rice-variety-pusa-basmati-1
#16
Vivek Kumar Singh, Brahma Deo Singh, Amit Kumar, Sadhna Maurya, Subbaiyan Gopala Krishnan, Kunnummal Kurungara Vinod, Madan Pal Singh, Ranjith Kumar Ellur, Prolay Kumar Bhowmick, Ashok Kumar Singh
Marker-assisted selection is an unequivocal translational research tool for crop improvement in the genomics era. Pusa Basmati 1 (PB1) is an elite Indian Basmati rice cultivar sensitive to salinity. Here, we report enhanced seedling stage salt tolerance in improved PB1 genotypes developed through marker-assisted transfer of a major QTL, Saltol . A highly salt tolerant line, FL478, was used as the Saltol donor. Parental polymorphism survey using 456 microsatellite (SSR)/QTL-linked markers revealed 14.3% polymorphism between PB1 and FL478...
2018: International Journal of Genomics
https://www.readbyqxmd.com/read/29785349/novel-non-symbiotic-isolates-of-neorhizobium-from-a-dryland-agricultural-soil
#17
Amalia Soenens, Juan Imperial
Semi-selective enrichment, followed by PCR screening, resulted in the successful direct isolation of fast-growing Rhizobia from a dryland agricultural soil. Over 50% of these isolates belong to the genus Neorhizobium , as concluded from partial rpoB and near-complete 16S rDNA sequence analysis. Further genotypic and genomic analysis of five representative isolates confirmed that they form a coherent group within Neorhizobium , closer to N. galegae than to the remaining Neorhizobium species, but clearly differentiated from the former, and constituting at least one new genomospecies within Neorhizobium...
2018: PeerJ
https://www.readbyqxmd.com/read/29785132/influence-of-fto-rs9939609-polymorphism-on-appetite-ghrelin-leptin-il6-tnf%C3%AE-levels-and-food-intake-of-women-with-morbid-obesity
#18
Fernanda Cristina Carvalho Mattos Magno, Helena Chrispim Guaraná, Ana Carolina Proença Fonseca, Giselda Maria Kalil Cabello, João Régis Ivar Carneiro, Aline Pereira Pedrosa, Ana Carolina Ximenes, Eliane Lopes Rosado
Background: The fat mass and obesity-related ( FTO ) gene has a strong relationship with obesity, extreme obesity and inflammatory state, and may also be associated with food intake regulation. Objective: The aim of the present study was to evaluate the influence of the rs9939609 single-nucleotide polymorphism of the FTO gene on appetite, ghrelin, leptin, interleukin 6 (IL6), tumor necrosis factor α (TNFα) levels and food intake of morbidly obese women. Materials and methods: The study comprised 70 women, aged between 20 and 48 years, from Rio de Janeiro, Brazil...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/29785111/association-of-serotonin-receptor-2a-haplotypes-with-obsessive-compulsive-disorder-and-its-treatment-response-in-iranian-patients-a-genetic-and-pharmacogenetic-study
#19
Marzie Sina, Abolhassan Ahmadiani, Sareh Asadi, Jamal Shams
Introduction: Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder causing intrusive thoughts or repetitive behaviors. Serotonin reuptake inhibitors are used for OCD treatment, but 40%-60% of patients do not respond to them adequately. In this study, the associations of serotonin receptor 2a polymorphisms rs6311 and rs6313 with OCD, its familial form and fluvoxamine treatment response in Iranian population were investigated. Patients and methods: Association analyses were conducted in 293 OCD cases fulfilling the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV-TR and 245 controls...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29785078/detection-of-hyper-conserved-regions-in-hepatitis-b-virus-x-gene-potentially-useful-for-gene-therapy
#20
Carolina González, David Tabernero, Maria Francesca Cortese, Josep Gregori, Rosario Casillas, Mar Riveiro-Barciela, Cristina Godoy, Sara Sopena, Ariadna Rando, Marçal Yll, Rosa Lopez-Martinez, Josep Quer, Rafael Esteban, Maria Buti, Francisco Rodríguez-Frías
AIM: To detect hyper-conserved regions in the hepatitis B virus (HBV) X gene ( HBX ) 5' region that could be candidates for gene therapy. METHODS: The study included 27 chronic hepatitis B treatment-naive patients in various clinical stages (from chronic infection to cirrhosis and hepatocellular carcinoma, both HBeAg-negative and HBeAg-positive), and infected with HBV genotypes A-F and H. In a serum sample from each patient with viremia > 3.5 log IU/mL, the HBX 5' end region [nucleotide (nt) 1255-1611] was PCR-amplified and submitted to next-generation sequencing (NGS)...
May 21, 2018: World Journal of Gastroenterology: WJG
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