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Genetics and Molecular Biology

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https://www.readbyqxmd.com/read/28644507/intrachromosomal-karyotype-asymmetry-in-orchidaceae
#1
Enoque Medeiros-Neto, Felipe Nollet, Ana Paula Moraes, Leonardo P Felix
The asymmetry indexes have helped cytotaxonomists to interpret and classify plant karyotypes for species delimitation efforts. However, there is no consensus about the best method to calculate the intrachromosomal asymmetry. The present study aimed to compare different intrachromosomal asymmetry indexes in order to indicate which are more efficient for the estimation of asymmetry in different groups of orchids. Besides, we aimed to compare our results with the Orchidaceae phylogenetic proposal to test the hypothesis of Stebbins (1971)...
June 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590504/identifying-mazama-gouazoubira-artiodactyla-cervidae-chromosomes-involved-in-rearrangements-induced-by-doxorubicin
#2
Iara Maluf Tomazella, Vanessa Veltrini Abril, José Maurício Barbanti Duarte
The process of karyotype evolution in Cervidae from a common ancestor (2n = 70, FN = 70) has been marked by complex chromosomal rearrangements. This ancestral karyotype has been retained by the current species Mazama gouazoubira (Fischer 1814), for which a chromosomal polymorphism (Robertsonian translocations and the presence of B chromosomes) has been described, presumably caused by a chromosome fragility. Thus, this study has identified doxorubicin-induced chromosome aberrations and mapped the regions involved in breaks, which may be related to the chromosome evolution process...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590503/growth-hormone-insensitivity-with-immune-dysfunction-caused-by-a-stat5b-mutation-in-the-south-of-brazil-evidence-for-a-founder-effect
#3
Renata C Scalco, Fernanda T Gonçalves, Hadassa C Santos, Mari M S G Cardena, Carlos A Tonelli, Mariana F A Funari, Rosana M Aracava, Alexandre C Pereira, Cintia Fridman, Alexander A L Jorge
Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590502/a-snp-in-5-untranslated-region-of-cd40-gene-is-associated-with-an-increased-risk-of-ischemic-stroke-in-a-chinese-population-a-case-control-study
#4
Hua-Tuo Huang, Jing Guo, Yang Xiang, Jian-Ming Chen, Hong-Cheng Luo, Lan-Qing Meng, Ye-Sheng Wei
Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590501/novel-compound-heterozygous-mutations-of-aldh1a3-contribute-to-anophthalmia-in-a-non-consanguineous-chinese-family
#5
Yunqiang Liu, Yongjie Lu, Shasha Liu, Shunyao Liao
Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28590500/genetic-diversity-of-morato-s-digger-toad-proceratophrys-moratoi-spatial-structure-gene-flow-effective-size-and-the-need-for-differential-management-strategies-of-populations
#6
Mauricio P Arruda, William P Costa, Shirlei M Recco-Pimentel
The Morato's Digger Toad, Proceratophrys moratoi, is a critically endangered toad species with a marked population decline in southern Brazilian Cerrado. Despite this, new populations are being discovered, primarily in the northern part of the distribution range, which raises a number of questions with regard to the conservation status of the species. The present study analyzed the genetic diversity of the species based on microsatellite markers. Our findings permitted the identification of two distinct management units...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28558075/a-never-ending-story-the-steadily-growing-family-of-the-fa-and-fa-like-genes
#7
Anna Gueiderikh, Filippo Rosselli, Januario B C Neto
Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016...
May 29, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28558074/individual-expression-features-of-gpx2-nqo1-and-sqstm1-transcript-variants-induced-by-hydrogen-peroxide-treatment-in-hela-cells
#8
Anna A Belanova, Dmitry S Smirnov, Maxim S Makarenko, Mariya M Belousova, Elena V Mashkina, Anzhela A Aleksandrova, Alexander V Soldatov, Peter V Zolotukhin
Pathway activity assessment-based approaches are becoming highly influential in various fields of biology and medicine. However, these approaches mostly rely on analysis of mRNA expression, and total mRNA from a given locus is measured in the majority of cases. Notably, a significant portion of protein-coding genes produces more than one transcript. This biological fact is responsible for significant noise when changes in total mRNA transcription of a single gene are analyzed. The NFE2L2/AP-1 pathway is an attractive target for biomedical applications...
May 29, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534930/sensitivity-of-rt-pcr-method-in-samples-shown-to-be-positive-for-zika-virus-by-rt-qpcr-in-vector-competence-studies
#9
Marcelo Henrique Santos Paiva, Duschinka Ribeiro Duarte Guedes, Walter Soares Leal, Constância Flávia Junqueira Ayres
Tissue samples from mosquitoes artificially infected with Zika virus and shown to be positive by RT-qPCR were reexamined by RT-PCR. Using these samples we compared the two methods employed in virus RNA detection for vector competence studies. Results demonstrated that, albeit useful, RT-PCR gave false negatives with low viral loads (< 106 RNA copies/ml).
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534929/teratogens-a-public-health-issue-a-brazilian-overview
#10
Thiago Mazzu-Nascimento, Débora Gusmão Melo, Giorgio Gianini Morbioli, Emanuel Carrilho, Fernanda Sales Luiz Vianna, André Anjos da Silva, Lavinia Schuler-Faccini
Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their mechanisms of action, categories and their respective maternal-fetal deleterious effects. We also present a survey from 2008 to 2013 of Brazilian cases involving congenital anomalies (annual average of 20,205), fetal deaths (annual average of 1,530), infant hospitalizations (annual average of 82,452), number of deaths of hospitalized infants (annual average of 2,175), and the average cost of hospitalizations (annual cost of $7,758)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534928/music-genetics-research-association-with-musicality-of-a-polymorphism-in-the-avpr1a-gene
#11
Luiza Monteavaro Mariath, Alexandre Mauat da Silva, Thayne Woycinck Kowalski, Gustavo Schulz Gattino, Gustavo Andrade de Araujo, Felipe Grahl Figueiredo, Alice Tagliani-Ribeiro, Tatiana Roman, Fernanda Sales Luiz Vianna, Lavínia Schuler-Faccini, Jaqueline Bohrer Schuch
Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28534927/genome-wide-association-study-for-birth-weaning-and-yearling-weight-in-colombian-brahman-cattle
#12
Rodrigo Martínez, Diego Bejarano, Yolanda Gómez, Romain Dasoneville, Ariel Jiménez, Gael Even, Johann Sölkner, Gabor Mészáros
Genotypic and phenotypic data of 1,562 animals were analyzed to find genomic regions that potentially influence the birth weight (BW), weaning weight at seven months of age (WW) and yearling weight (YW) of Colombian Brahman cattle, with genotyping conducted using Illumina Bead chip array with 74,669 SNPs. A Single Step Genomic BLUP (ssGBLP), approach was used to estimate the proportion of variance explained by each marker. Multiple regions scattered across the genome were found to influence weights at different ages, also dependent on the trait component (direct or maternal)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28497839/evaluation-of-the-association-between-the-tas1r2-and-tas1r3-variants-and-food-intake-and-nutritional-status-in-children
#13
Silvia V Melo, Grasiela Agnes, Márcia R Vitolo, Vanessa S Mattevi, Paula D B Campagnolo, Silvana Almeida
Taste perception plays a key role in determining individual food preferences and dietary habits and may influence nutritional status. This study aimed to investigate the association of TAS1R2 (Ile191Val - rs35874116) and TAS1R3 (-1266 C/T - rs35744813) variants with food intake and nutritional status in children followed from birth until 7.7 years old. The nutritional status and food intake data of 312 children were collected at three developmental stages (1, 3.9 and 7.7 years old). DNA was extracted from blood samples and the polymorphisms were analyzed by real-time polymerase chain reactions (qPCR) using hydrolysis probes as the detection method...
May 11, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28497838/effect-of-bche-single-nucleotide-polymorphisms-on-lipid-metabolism-markers-in-women
#14
Jéssica de Oliveira, Luciane Viater Tureck, Willian Dos Santos, Louise Farah Saliba, Caroline Schovanz Schenknecht, Débora Scaraboto, Ricardo Lehtonen R Souza, Lupe Furtado-Alle
Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81)...
May 11, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28497837/frequency-of-adult-type-associated-lactase-persistence-lct-13910c-t-genotypes-in-the-czech-slav-and-czech-roma-gypsy-populations
#15
Jaroslav A Hubácek, Věra Adámková, Lenka Šedová, Věra Olišarová, Václav Adámek, Valérie Tóthová
Lactase non-persistence (leading to primary lactose intolerance) is a genetically dependent inability to digest lactose in adulthood. As part of the human adaptation to dairying, the human lactase LCT-13910C/T mutation (which propagates adult expression of lactase) developed, spread and participated in the adaptation to dairying. This variant is associated with lactase activity persistence, and its carriers are able to digest lactose. We compared the frequencies of lactase 13910C/T (rs4988235) genotypes in Czechs/Slavs (N = 288) and Czech Gypsies/Roma (N = 300), two ethnically different groups where this polymorphism has not yet been analysed...
May 11, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28486573/is-a-non-synonymous-snp-in-the-hvaact1-coding-region-associated-with-acidic-soil-tolerance-in-barley
#16
Jéssica Rosset Ferreira, Bruna Franciele Faria, Moacyr Comar, Carla Andréa Delatorre, Euclydes Minella, Jorge Fernando Pereira
The barley HvAACT1 gene codes for a citrate transporter associated with tolerance to acidic soil. In this report, we describe a single nucleotide polymorphism (SNP) in the HvAACT1 coding region that was detected as T-1,198 (in genotypes with lower root growth on acidic soil) or G-1,198 (greater root growth) and resulted in a single amino acid change (L/V-172). Molecular dynamic analysis predicted that HvAACT1 proteins with L or V-172 were stable, although the substitution led to structural changes within the protein...
May 8, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28486572/evaluation-of-mc1r-high-throughput-nucleotide-sequencing-data-generated-by-the-1000-genomes-project
#17
Leonardo Arduino Marano, Letícia Marcorin, Erick da Cruz Castelli, Celso Teixeira Mendes-Junior
The advent of next-generation sequencing allows simultaneous processing of several genomic regions/individuals, increasing the availability and accuracy of whole-genome data. However, these new approaches may present some errors and bias due to alignment, genotype calling, and imputation methods. Despite these flaws, data obtained by next-generation sequencing can be valuable for population and evolutionary studies of specific genes, such as genes related to how pigmentation evolved among populations, one of the main topics in human evolutionary biology...
May 8, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28486571/ras-oncogene-and-hypoxia-inducible-factor-1-alpha-hif-1%C3%AE-expression-in-the-amazon-fish-colossoma-macropomum-cuvier-1818-exposed-to-benzo-a-pyrene
#18
Grazyelle Sebrenski da Silva, Luciana Mara Lopes Fé, Maria de Nazaré Paula da Silva, Vera Maria Fonseca de Almeida E Val
Benzo[a]pyrene (B[a]P) is a petroleum derivative capable of inducing cancer in human and animals. In this work, under laboratory conditions, we analyzed the responses of Colossoma macropomum to B[a]P acute exposure through intraperitoneal injection of four different B[a]P concentrations (4, 8, 16 and 32 μmol/kg) or corn oil (control group). We analyzed expression of the ras oncogene and the Hypoxia-inducible factor-1 alpha (hif-1α) gene using quantitative real-time PCR. Additionally, liver histopathological changes and genotoxic effects were evaluated through the comet assay...
May 8, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28399193/high-genetic-diversity-among-and-within-bitter-manioc-varieties-cultivated-in-different-soil-types-in-central-amazonia
#19
Alessandro Alves-Pereira, Nivaldo Peroni, Marcelo Mattos Cavallari, Maristerra R Lemes, Maria Imaculada Zucchi, Charles R Clement
Although manioc is well adapted to nutrient-poor Oxisols of Amazonia, ethnobotanical observations show that bitter manioc is also frequently cultivated in the highly fertile soils of the floodplains and Amazonian dark earths (ADE) along the middle Madeira River. Because different sets of varieties are grown in each soil type, and there are agronomic similarities between ADE and floodplain varieties, it was hypothesized that varieties grown in ADE and floodplain were more closely related to each other than either is to varieties grown in Oxisols...
April 10, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28644509/comparative-transcriptomic-analysis-of-two-important-life-stages-of-angiostrongylus-cantonensis-fifth-stage-larvae-and-female-adults
#20
Liang Yu, Binbin Cao, Ying Long, Meks Tukayo, Chonglv Feng, Wenzhen Fang, Damin Luo
The mechanisms involved in the fast growth of Angiostrongylus cantonensis from fifth-stage larvae (L5) to female adults and how L5 breaks through the blood-brain barrier in a permissive host remain unclear. In this work, we compared the transcriptomes of these two life stages to identify the main factors involved in the rapid growth and transition to adulthood. RNA samples from the two stages were sequenced and assembled de novo. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses of 1,346 differentially expressed genes between L5 and female adults was then undertaken...
April 2017: Genetics and Molecular Biology
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