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Biochemical Genetics

Fatma Yıldırım, Adnan Nurhan Yıldırım, Gülcan Özkan, Bekir Şan, Mehmet Polat, Hatice Aşık, Yaşar Karakurt, Sezai Ercişli
The study was conducted to determine the effects of cultivar, harvest period, and their interaction on the hydrophilic phenolic components extra virgin olive oils of the cultivars 'Ayvalık,' 'Memecik,' and 'Topakaşı.' Olives were collected at three different harvesting periods: (1) early harvest period-1 (Beginning of spotting), (2) early harvest period-2 (End of spotting), and (3) optimum harvest period. Oils were extracted using the Abencor system. HPLC (High-performance liquid chromatograph) technique was used to quantify the phenolic compounds including tyrosol (p-HPEA), hydroxytyrosol (3,4-DHPEA), luteolin, rutin, quercetin, catechin, sinapinic acid, p-coumaric acid, cinnamic acid, vanillin, vanillic acid, ferulic acid, and gallic acid...
December 2, 2016: Biochemical Genetics
L Agnello, C Scazzone, B Lo Sasso, C Bellia, G Bivona, S Realmuto, F Brighina, R Schillaci, P Ragonese, G Salemi, Marcello Ciaccio
Multiple sclerosis (MS) is a chronic demyelinating disease of central nervous system regarded as one of the most common causes of neurological disability in young adults. The exact etiology of MS is not yet known, although epidemiological data indicate that both genetic susceptibility and environmental exposure are involved. A poor vitamin D status has been proposed as the most attractive environmental factor. Several evidence have highlighted the importance of mutations in vitamin D-regulating genes for vitamin D status...
November 30, 2016: Biochemical Genetics
Deniz Kanca, Uzay Gormus, Bengu Tokat, Allison P Eronat, Zehra Bugra, Oğuz Ozturk, Hulya Yilmaz-Aydogan
Recently, subfraction analysis of serum low density lipoprotein (LDL) is considered to be a better predictor of the risk of coronary heart disease (CHD) compared to the other lipid parameters. The aim of this study was to examine the effects of the HDL-associated Taq1B (rs708272) SNP of cholesterol ester transfer protein (CETP) gene on serum LDL subfractions in patients with CHD. Serum lipid levels were measured enzymatically and LDL subfraction analysis was carried out by the Lipoprint System (Quantimetrix, CA, USA)...
November 30, 2016: Biochemical Genetics
Maria Selvaggi, Sara Albarella, Cataldo Dario, Vincenzo Peretti, Francesca Ciotola
Two polymorphisms at STAT5A gene were investigated in a sample of Agerolese cows. The aims of the present study were to estimate the allele and genotype frequencies and to investigate the relationship among genotypes and milk production traits. Milk production traits were analyzed for each animal in the first, second, third, and fourth lactation. No genetic variability was found at STAT5A/AvaI locus. At STAT5A/MslI locus, the frequencies of T and C alleles were 0.875 and 0.125, respectively. Significant differences between genotypes were found: TT cow produced a milk with a higher content of fat and protein when compared with TC...
November 24, 2016: Biochemical Genetics
Iolanda Muntean, Rodica Togănel, Theodora Benedek
Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies...
November 2, 2016: Biochemical Genetics
Valérie Roussel, Alain Van Wormhoudt
The genetic differentiation among the populations of the European abalone Haliotis tuberculata was investigated using different markers to better understand the evolutionary history and exchanges between populations. Three markers were used: mitochondrial cytochrome oxidase I (COI), the sperm lysin nuclear gene, and eight nuclear microsatellites. These markers present different characteristics concerning mutation rate and inheritance, which provided complementary information about abalone history and gene diversity...
October 20, 2016: Biochemical Genetics
Mazen Abuzayed, Nourhan El-Dabba, Anne Frary, Sami Doganlar
Gene diversity (GD), also called polymorphism information content, is a commonly used measure of molecular marker polymorphism. Calculation of GD for dominant markers such as AFLP, RAPD, and multilocus SSRs is valuable for researchers. To meet this need, we developed a free online computer program, GDdom, which provides easy, quick, and accurate calculation of dominant marker GD with a commonly used formula. Results are presented in tabular form for quick interpretation.
October 14, 2016: Biochemical Genetics
Antonis Goulas, Dimitrios Agapakis, Athanassios Apostolidis, Dimitra Gouda, Sotirios Anastassiadis, Christina Trakatelli, Christos Savopoulos, Apostolos I Hatzitolios
Catalase represents perhaps the most effective antioxidant defense in the body under conditions of increased oxidative stress, and rs1001179 (CAT-262C >T) is its most extensively studied gene polymorphism. Using an established PCR-RFLP method for genotyping, we examined the association of rs1001179 with glycated hemoglobin (HbA1c) and plasma lipids using univariate analyses with age, sex, body mass index (BMI), smoking, and alcohol abuse as covariates, in a group of dyslipidemic patients from northern Greece...
October 4, 2016: Biochemical Genetics
Setareh Mirzavand, Karim Sorkheh, Mohammad Reza Siahpoosh
Plant peroxidases belong to a multigene family and possess highly conserved domains allowing designing oligonucleotide primers to amplify DNA sequences coding for peroxidases from plants with unsequenced genomes. Peroxidase gene-based polymorphism among wild Pistacia species, and correlation between peroxidase markers were deduced in this study. Wild Pistacia germplasm was evaluated using 30 peroxidase-specific primers. Targeted-PCR amplification of genomic DNA from 100 wild accessions of Pistacia species produced polymorphisms giving a similarity range from 0...
October 4, 2016: Biochemical Genetics
Atieh Hakimi, Maryam Zolfaghari, Karim Sorkheh
Glycyrrhiza glabra is an endangered and national-protected medicinal plant species distributed in semi-arid and arid areas of South of Iran. This study addresses the genetic diversity and relationship between populations in different habitats by amplified fragment length polymorphism (AFLP). The plant materials consisted of 90 individuals from nine different populating areas of Dezful, Ramhormoz, Ahvaz, Abadan, Khorramshahr, Behbahan, Haft-tapeh, Andimeshk, and Shushtar. Twenty-three AFLP primer combinations generated a total of 1019 bands with 94...
September 28, 2016: Biochemical Genetics
Ozhan Simsek, Pembe Curuk, Fatma Aslan, Melda Bayramoglu, Tolga Izgu, Jaime A Teixeira da Silva, Yildiz Aka Kacar, Yesim Yalcin Mendi
No abstract text is available yet for this article.
September 17, 2016: Biochemical Genetics
İlhan Elmaci, Meric A Altinoz
Pancreatic cancer (PC) and glioblastoma multiforme (GBM) are among the human cancers with worst prognosis which require an urgent need for efficient therapies. Here, we propose to apply to treat both malignancies with a triple combination of drugs, which are already in use for different indications. Recent studies demonstrated a considerable link between risk of PC and diabetes. In experimental models, anti-diabetogenic agents suppress growth of PC, including metformin (M), pioglitazone (P) and lithium (L)...
October 2016: Biochemical Genetics
F Mohseni, Z Rashvand, R Najafipour, Sh Hadizadeh, S Moghbelinejad
Different studies have shown that -238 G>A polymorphism in promoter region of tumor necrosis factor alpha (TNF-α) gene is associated with increased risk of non-alcoholic fatty liver disease (NAFLD). The current study investigates the association between metabolic parameters and nutritional intakes with -238 G>A of TNF-α promoter gene polymorphism among the Iranian patients with NAFLD. In this study, 75 patients with NAFLD and 76 individuals as control were enrolled. Dietary intakes were assessed using a semi-quantitative food-frequency questionnaire...
October 2016: Biochemical Genetics
Muhammad Wasim, Fazli Rabbi Awan, Syeda Sadia Najam, Abdul Rehman Khan, Haq Nawaz Khan
Leptin protein consists of 167 amino acids, which is mainly secreted from the white adipose tissue. This protein acts on the hypothalamic regions of the brain which control eating behavior, thus playing a significant role in maintaining body's metabolism. Leptin receptors belong to glycoprotein 130 (gp130) family of cytokine receptors and exist in six isoforms (LEPR a-f), and all the isoforms are encoded by LEPR gene; out of these isoforms, the LEPR-b receptor is the 'longest form,' and in most of the cases, mutations in this isoform cause severe obesity...
October 2016: Biochemical Genetics
Manuela N Drehmer, Dalila G Suterio, Yara C N Muniz, Iliada R de Souza, Sara E Löfgren
Among several autoimmune diseases, one of the main risk factors is the female gender, and much consideration has been given to the involvement of female hormones in their etiology. B-cell activating factor (BAFF) is a key factor in survival and maturation of B cells and is overexpressed in several autoimmune patients although the mechanism behind this feature is unclear. In murine models, BAFF expression could be upregulated by exogenous estrogen treatment in splenocytes; however, no evidence of this relationship was available in humans...
October 2016: Biochemical Genetics
Amani Kallel, Mohamed Hedi Sbaï, Yousra Sédiri, Moncef Feki, Mohamed Sami Mourali, Rachid Mechmeche, Riadh Jemaa, Naziha Kaabachi
The prothrombin is the precursor of the serine protease thrombin, a key enzyme in homeostasis. Prothrombin G20210A polymorphism (rs1799963) was described as a moderate risk factor for venous thrombosis because this mutation is associated with prothrombin elevated levels which may lead to an imbalance between the procoagulant, anticoagulant, and fibrinolytic system. 20210A carriers have an increased risk of thrombosis. In this study, we proposed to determine the prevalence of 20210A prothrombin variant among Tunisian population, and to evaluate the potential relevance of this variant with myocardial infarction...
October 2016: Biochemical Genetics
Orkide Palabiyik, Aziz Karaca, Ebru Taştekin, Bilge Eren Yamasan, Burcu Tokuç, Tammam Sipahi, Selma Arzu Vardar
High-protein (HP) diets are commonly consumed by athletes despite their potential health hazard, which is postulated to enforce a negative effect on bone and renal health. However, its effects on heart have not been known yet. Aquaporin-7 (AQP7) is an aquaglyceroporin that facilitates glycerol and water transport. Glycerol is an important cardiac energy production substrate, especially during exercise, in conjunction with fatty acids and glucose. Glucose transporter 4 (GLUT4) is an insulin-sensitive glucose transporter in heart...
October 2016: Biochemical Genetics
Hasan Raza Kazmi, Abhijit Chandra, Jaya Nigam, Kavita Baghel, Meenu Srivastava, Shailendra S Maurya, Devendra Parmar
In the present study, we investigated expression pattern of Cholecystokinin type A receptor (CCKAR) in relation to its commonly studied polymorphism (rs1800857, T/C) in gallstone disease (GSD) patients and controls. A total of 502 subjects (272 GSD and 230 controls) were enrolled, and genotyping was performed by evaluating restriction fragments of PstI digested DNA. For analyzing expression pattern of CCKAR in relation to polymorphism, gallbladder tissue samples from 80 subjects (GSD-55; control-25) were studied...
October 2016: Biochemical Genetics
Ekbal M Abo-Hashem, Wafaa M El-Emshaty, Raghda El Sayed Farag, Sahar Zakaria, Mohammed Abd El-Aziz, Azza Ghonaim
Cytochrome P450 1A1 (CYP1A1) and Glutathione S-transferase P1 (GSTP1) genes are involved in the metabolism of many carcinogens. Polymorphisms in these genes with altered enzyme activity have been reported. The present study evaluated the synergistic effect between CYP1A1 and GSTP1 gene polymorphisms and smoking on development of HCV-related liver disease and hepatocellular carcinoma (HCC). The patients group comprised 40 patients with HCC and 40 patients with liver cirrhosis. The control group comprised 40 healthy subjects having no history of malignancy...
October 2016: Biochemical Genetics
Aleksandra Topic, Ljudmila Nagorni-Obradovic, Djordje Francuski, Mila Ljujic, Zivka Malic, Dragica Radojkovic
Alpha-1-antitrypsin deficiency (AATD) and tobacco smoke play a key role in the pathogenesis of early-onset emphysema. Differences in AATD-related chronic obstructive pulmonary disease stages imply the existence of modifying factors associated with disease severity. We present two male patients with emphysema caused by severe AATD (PiZZ genotype). Both are former smokers and have epoxide hydrolase low-activity phenotype. Extremely high level of oxidative stress (high urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine), increased inflammation (high serum CRP), and GSTP1 105Val mutation were found in patient with a worse lung function and prognosis...
October 2016: Biochemical Genetics
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