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Reaction Restriction Fragment Length Polymorphism (reaction + restriction_fragment_length_polymorphism)

Distribution by Scientific Domains
Medical Sciences66%
Life Sciences33%

Kinds of Reaction Restriction Fragment Length Polymorphism

  • chain reaction restriction fragment length polymorphism
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  • polymerase chain reaction restriction fragment length polymorphism
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    Selected Abstracts

    Mitochondrial superoxide dismutase and glutathione peroxidase in idiosyncratic drug-induced liver injury,,

    HEPATOLOGY, Issue 1 2010
    M. Isabel Lucena
    Drug-induced liver injury (DILI) susceptibility has a potential genetic basis. We have evaluated possible associations between the risk of developing DILI and common genetic variants of the manganese superoxide dismutase (SOD2 Val16Ala) and glutathione peroxidase (GPX1 Pro200Leu) genes, which are involved in mitochondrial oxidative stress management. Genomic DNA from 185 DILI patients assessed by the Council for International Organizations of Medical Science scale and 270 sex- and age-matched controls were analyzed. The SOD2 and GPX1 genotyping was performed using polymerase chain reaction restriction fragment length polymorphism and TaqMan probed quantitative polymerase chain reaction, respectively. The statistical power to detect the effect of variant alleles with the observed odds ratio (OR) was 98.2% and 99.7% for bilateral association of SOD2 and GPX1, respectively. The SOD2 Ala/Ala genotype was associated with cholestatic/mixed damage (OR = 2.3; 95% confidence interval [CI] = 1.4-3.8; corrected P [Pc] = 0.0058), whereas the GPX1 Leu/Leu genotype was associated with cholestatic injury (OR = 5.1; 95%CI = 1.6-16.0; Pc = 0.0112). The presence of two or more combined risk alleles (SOD2 Ala and GPX1 Leu) was more frequent in DILI patients (OR = 2.1; 95%CI = 1.4-3.0; Pc = 0.0006). Patients with cholestatic/mixed injury induced by mitochondria hazardous drugs were more prone to have the SOD2 Ala/Ala genotype (OR = 3.6; 95%CI = 1.4-9.3; Pc = 0.02). This genotype was also more frequent in cholestatic/mixed DILI induced by pharmaceuticals producing quinone-like or epoxide metabolites (OR = 3.0; 95%CI = 1.7-5.5; Pc = 0.0008) and S-oxides, diazines, nitroanion radicals, or iminium ions (OR = 16.0; 95%CI = 1.8-146.1; Pc = 0.009). Conclusion: Patients homozygous for the SOD2 Ala allele and the GPX1 Leu allele are at higher risk of developing cholestatic DILI. SOD2 Ala homozygotes may be more prone to suffer DILI from drugs that are mitochondria hazardous or produce reactive intermediates. (HEPATOLOGY 2010) [source]

    Common single nucleotide polymorphisms in cyclooxygenase-2 and risk of severe chronic periodontitis in a Chinese population

    JOURNAL OF CLINICAL PERIODONTOLOGY, Issue 3 2009
    Cheng-Jie Xie
    Abstract Aim: Several common single nucleotide polymorphisms (SNPs) of the cyclooxygenase-2 (COX-2) gene have been reported to be functional. The association between ,1195GA, ,765GC and 8473TC of COX-2, and severe chronic periodontitis (CP) in a Chinese population was investigated. Material and Methods: 148 cases of healthy controls (control group) and 146 cases of severe CP were recruited in this study. Genotypes of ,1195GA, ,765GC and 8473TC were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The distributions of genotypes and haplotypes were compared by ,2 test and the odds ratios (ORs) were calculated by logistic regression analysis. Results: The prevalence of the ,1195A was more prevalent in CP group (60.62%) than control group (51.35%), and the distributions of the ,765C and 8473C were higher in control group (6.76% and 21.96%) compared with CP group (3.08% and 15.07%). Only genotype distribution of ,1195GA was significant when p -value was corrected for multiple testing (pc=0.033). The adjusted ORs for the ,1195AA/GA, ,765GC and 8473CC/TC were 2.49 (95% CI=1.33,4.69, p=0.005), 0.45 (95% CI=0.20,1.04, p=0.061) and 0.67 (95% CI=0.41,1.11, p=0.118). Subjects with the haplotype AGT had a significantly higher risk of periodontitis than those with the most common haplotype GGT (OR=1.91, 95% CI=1.32,2.76, pc<0.001). Conclusions: It suggests the ,1195A variant is associated with an increased risk for severe CP. [source]

    Polymorphism of human leptin receptor gene is associated with type 2 diabetic patients complicated with non-alcoholic fatty liver disease in China

    JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 2 2009
    Hongyun Lu
    Abstract Background and Aim:, To investigate the relationship between human leptin receptor (LEPR) gene G3057A polymorphism and type 2 diabetes mellitus (T2DM) patients complicated with or without non-alcoholic fatty liver disease (NAFLD). Methods:, Two hundred and sixteen cases of newly diagnosed T2DM patients (104 cases complicated with NAFLD) and 108 cases of normal glucose tolerances (NGT) were recruited. Hemi-nested polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and PCR-direct sequence analysis were conducted to detect the polymorphism of LEPR G3057A variation. Plasma leptin levels were measured by enzyme-linked immunosorbent assay kit. Plasma lipid and glucose metabolic parameters were measured routinely. Liver ultrasound was carried out for all subjects. Results:, T2DM patients complicated with NAFLD had higher plasma insulin, leptin, triglycerides (TG) and low-density lipoprotein cholesterol (LDL-C) levels than those without NAFLD and NGT subjects. The variant frequency at nucleotide 3057 G,A transversion was 76.0% in type 2 diabetic patients complicated with NAFLD, which was also significantly higher than those without NAFLD (62.1%) and NGT cases (53.2%). There was also significant difference in genotype distribution between the three groups (,2 = 14.63, P < 0.01). Conclusion:, The polymorphism of LEPR gene 3057 probably contributes to the onset of NAFLD by regulating lipid metabolism and affecting insulin sensitivity. [source]

    Association of IL-4 589 C/T promoter and IL-4R,I50V receptor polymorphism with susceptibility to HIV-1 infection in North Indians

    JOURNAL OF MEDICAL VIROLOGY, Issue 6 2009
    Animesh Chatterjee
    Abstract The clinical course and outcome of HIV-1 infection are highly variable among individuals. Interleukin 4 (IL-4) is a key T helper 2 cytokine with various immune-modulating functions including induction of immunoglobulin E (IgE) production in B cells, downregulation of CCR5 and upregulation of CXCR4, the main co-receptors for HIV. Our objective is to investigate whether single-nucleotide polymorphisms (SNPs) in the IL-4 promoter 589 C/T and IL-4 R, I50V affect the susceptibility to HIV infection and its progression to AIDS in North Indian individuals. The study population consisted of 180 HIV-1 seropositive (HSP) stratified on the basis of disease severity (stage I, II, III), 50 HIV-1 exposed seronegative (HES), and 305 HIV-1 seronegative (HSN) individuals. The subjects were genotyped for IL-4 589 C/T promoter polymorphism and IL-4 R, I50V by polymerase chain reaction restriction fragment length polymorphism. The results showed that IL-4 589 C/T was not associated with the risk of HIV infection and disease progression. However, the IL-4R, I50 allele and genotype was significantly increased in HSP compared to HSN and HSP and was associated with risk of HIV infection. The frequency of IL-4R, I50 allele in the HSP group was higher than in HSN (76.11 vs. 64.75%; P,=,0.000; OR,=,1.734) and HES (76.11% vs. 62.00%; P,=,0.007; OR,=,1.953). Homozygous IL-4R, I50I genotype was significantly increased in HSP group compared with HSN (58.88% vs. 44.26%; P,=,0.002; OR,=,1.804) and HES (58.88% vs. 42.00%; P,=,0.038; OR,=,1.978). The present study for the first time suggests an association of IL-4R, I50 allele with increased likelihood of HIV-1 infection in North Indian population. Further studies are required to confirm these findings and understand the effect of IL-4R, polymorphism on the outcome of HIV-1 infection. J. Med. Virol. 81:959,965, 2009. © 2009 Wiley-Liss, Inc. [source]

    Testing Genetic Susceptibility Loci for Alcoholic Heart Muscle Disease

    ALCOHOLISM, Issue 10 2001
    Olli A. Kajander
    Background: Although many heavy alcohol users have subclinical alcoholic heart muscle disease, only a very few develop severe dilated cardiomyopathy. Therefore, and because cardiac abnormalities correlate only weakly with the duration or quantity of drinking, individual susceptibility differences may exist. In this work we examined whether common gene variants previously associated with cardiac hypertrophy or altered alcohol metabolism could modify the effects of alcohol on the heart. Methods: We studied 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy. In addition to routine postmortem examination, the weights and the cavity and wall dimensions of the left and right ventricle were measured. Coronary artery stenoses were determined from a silicone rubber cast of the arteries. Alcohol consumption and cardiovascular risk factors were assessed by a structured interview of the spouse. The following gene polymorphisms were determined by using polymerase chain reaction restriction fragment length polymorphism and solid-phase minisequencing techniques: angiotensin converting enzyme I/D, angiotensin II type 1 receptor 1166A/C, aldosterone synthase ,344C/T, alcohol dehydrogenases 2 and 3, acetaldehyde dehydrogenase 2, and cytochrome P-450 2E1 Dra I, Pst I, Rsa I, and Msp I. Results: The most consistent effects of alcohol (p < 0.05) were a higher total heart weight and a larger right ventricle size with increasing daily drinking. However, these and other effects of alcohol were statistically fully independent of the studied genotypes. Conclusions: The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease. [source]

    Distribution and diversity of rhizobia nodulating agroforestry legumes in soils from three continents in the tropics

    MOLECULAR ECOLOGY, Issue 4 2003
    Abdullah Bala
    Abstract The natural rhizobial populations of Calliandra calothyrsus, Gliricidia sepium, Leucaena leucocephala and Sesbania sesban were assessed in soils from nine sites across tropical areas of three continents. The rhizobial population size varied from undetectable numbers to 1.8 × 104 cells/g of soil depending on the trap host and the soil. Calliandra calothyrsus was the most promiscuous legume, nodulating in eight soils, while S. sesban nodulated in only one of the soils. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analyses of the 16S rRNA gene and the internally transcribed spacer (ITS) region between the 16S and 23S rRNA genes were used to assess the diversity and relative abundance of rhizobia trapped from seven of the soils by C. calothyrsus, G. sepium and L. leucocephala. Representatives of the 16S rRNA RFLP groups were also subjected to sequence analysis of the first 950 base pairs of the 16S rRNA gene. Eighty ITS groups were obtained, with none of the ITS types being sampled in more than one soil. RFLP analysis of the 16S rRNA yielded 23 ,species' groups distributed among the Rhizobium, Mesorhizobium, Sinorhizobium and Agrobacterium branches of the rhizobial phylogenetic tree. The phylogeny of the isolates was independent of the site or host of isolation, with different rhizobial groups associated with each host across the soils from widely separated geographical regions. Although rhizobial populations in soils sampled from the centre of diversity of the host legumes were the most genetically diverse, soil acidity was highly correlated with the diversity of ITS types. Our results support the hypothesis that the success of these tree legumes in soils throughout the tropics is the result of their relative promiscuity (permissiveness) allowing nodulation with diverse indigenous rhizobial types. [source]