WorldWideScience
 
 
1

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays  

UK PubMed Central (United Kingdom)

We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture....Full Text Available

2008-08-01

2

SNP diversity of Enterococcus faecalis and Enterococcus faecium in a South East Queensland waterway, Australia, and associated antibiotic resistance gene profiles.  

Science.gov (United States)

PMID:21910889

2011-09-12

3

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects  

UK PubMed Central (United Kingdom)

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

2010-01-01

4

A post-labeling method for multiplexed and multicolored genotyping analysis of SSR, indel and SNP markers in single tube with bar-coded split tag (BStag)  

UK PubMed Central (United Kingdom)

BackgroundGenotyping analysis using capillary DNA sequencing with fluorescently labeled primer pairs obtained by polymerase chain reaction (PCR) is widely used, but is expensive....Full Text Available

5

A Brassica rapa Linkage Map of EST-based SNP Markers for Identification of Candidate Genes Controlling Flowering Time and Leaf Morphological Traits  

UK PubMed Central (United Kingdom)

For identification of genes responsible for varietal differences in flowering time and leaf morphological traits, we constructed a linkage map of Brassica rapa DNA markers including...Full Text Available

2009-12-01

6

Toll-like receptor 2 polymorphism and gram-positive bacterial infections after liver transplantation  

British Library Electronic Table of Contents (United Kingdom)

Abstract Toll-like receptor 2 (TLR2) is an immune sensor for gram-positive bacterial cell wall components. Single-nucleotide polymorphisms (SNPs) in the TLR2 gene that impair its function may, therefore, influence the risk and outcomes of gram-positive bacterial infections. In a cohort of 694 liver transplant recipients, we assessed the TLR2 SNP that is translated into an amino acid substitution of arginine for glutamine at position 753 (R753Q), and we found that its presence was associated with the clinical characteristics and outcomes of gram-positive bacterial infections. The proportions of patients with the TLR2 R753Q SNP did not significantly differ between those with gram-positive bacterial infections and those without gram-positive bacterial infections (9.6% versus 9.6%, P = 0.999)....

2011-01-01

7

Genome-Wide Association Study SNPs in the Human Genome Diversity Project Populations: Does Selection Affect Unlinked SNPs with Shared Trait Associations?  

UK PubMed Central (United Kingdom)

Genome-wide association studies (GWAS) have identified more than 2,000 trait-SNP associations, and the number continues to increase. GWAS have focused on traits with potential consequences for human...Full Text Available

2011-01-01

8

Fluidic controls for the NERVA engine. Fourth semiannual progress report, November 1969--April 1970  

International Nuclear Information System (INIS)

Development progress of the full-flow engine fluidic control system is reported. The fluidic temperature control subsystem was transferred from IR and D status to the SNP-1 program contract 1 December 1969. Several new fluidic control concepts were explored either experimentally or analytically. Basic component and subsystem design data at simulated engine state-point conditions were secured. Component design effort during the next six months will include fabrication and simulated tests of selected ''breadboard'' configurations. (auth).

9

Doppler-free optogalvanic spectroscopy of sup(88,86)Sr I and II  

International Nuclear Information System (INIS)

We have measured the isotope shifts of some dipole transitions between excited states of the even strontium isotopes 88 and 86 by applying the technique of Doppler-free intermodulated optogalvanic spectrocopy to a heat-pipe discharge. We were also able to investigate the isotope shift of the Sr II resonance line at 4216.6 A optogalvanically in the mentioned pair of isotopes. Because the 5 snf"1F_3 series appear to have zero level isotope shifts for n>=6, we can give residual level isotope shifts (RLIS) of several odd-parity states of sup(88,86) Sr I. The RLIS of the 5 snp "1P_1 series show pronounced configuration mixing around n=7. (orig.).

10

Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil  

British Library Electronic Table of Contents (United Kingdom)

Background and objectives.Thymidylate synthase (TS) expression levels appear to be related to response to 5-fluorouracil-(5-FU)-based chemotherapy in colorectal cancer (CRC) patients. Three polymorphisms have been proposed as modulators of TS expression: a tandemly repeated sequence (2R/3R) in the 5? UTR, a SNP (G > C) within the 3R allele and a 6 bp deletion in the 3' UTR.To evaluate the influence of TS expression and polymorphisms on clinical outcome of 5-FU-treated patients we performed a comprehensive genetic analysis on 63 CRC patients.Methods.TS expression levels were analyzed in normal and tumor tissues. TS coding sequence and UTR polymorphisms were investigated on DNA from normal tissue. LOH analysis was performed to determine tumor genotype.Results.A difference in disease-free sur...

2011-01-01

11

TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals.  

Science.gov (United States)

The iron hormone hepcidin is inhibited by matriptase-2, a liver serine-protease encoded by TMPRSS6 gene. Cleaving the BMP-coreceptor hemojuvelin, matriptase-2 impairs the BMP/SMAD signaling pathway, downregulates hepcidin and facilitates iron absorption. TMPRSS6 inactivation causes iron-deficiency-anemia refractory to iron administration both in humans and mice. Genome wide association studies have shown that the SNP rs855791, which causes the matriptase-2 V736A amino acid substitution, is associated with variations of serum iron, transferrin saturation, hemoglobin and erythrocyte traits. Here we show that in vitro matriptase-2 736(A) inhibits hepcidin more efficiently than 736(V). Moreover, in a genotyped population, after exclusion of samples with iron deficiency and inflammation, hepcidin, hepcidin/transferrin saturation and hepcidin/ferritin ratios were significantly lower and iron parameters were consistently higher in homozygotes 736(A) than in 736(V). Our ...

2011-08-26

12

Susceptible gene single nucleotide polymorphism and hemorrhage risk in patients with brain arteriovenous malformation  

British Library Electronic Table of Contents (United Kingdom)

The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor @b (TGF-@b), as well as its receptor (TGFR-@b2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study. A total of 53 patients with BAVM and 120 healthy controls were recruited, all of whom were Han Chinese from South China. There were no statistically significant differences in the IL-17A-197 guanine/adenine (G/A) or TGF-@b1-509 cytosine/thymine (C/T) genotypes or gene frequencies between BAVM patients and controls (p>0.05), but the gene frequency of the TGFR-@b2-875 A/G genotype in patients with BAVM was significantly higher (p<0.05). Furthermore, the frequencies of the G allele of IL-17...

2011-01-01

13

Excitation cross sections for the ns "2S#->#np "2P resonance transitions in Mg"+ (n=3) and Zn"+ (n=4) using electron-energy-loss and merged-beams methods  

International Nuclear Information System (INIS)

Electron-excitation cross sections are reported for the 3s "2S#->#3p "2P(h,k) resonance transition in Mg"+ at energies from threshold (4.43 eV) to approximately 9 times threshold (40.0 eV). The electron-energy-loss merged-beams technique used in these measurements is described in detail. In addition, the method of separating contributions of the elastically scattered (Coulomb) and the inelastically scattered electrons in the present Mg"+ case and previously reported Zn"+ results [Phys. Rev. Lett. 67, 30 (1991)] is described. Comparisons in the experimental energy range are made for Mg"+ with the two five-state close-coupling theoretical calculations carried out herein, and with other published close-coupling, distorted-wave, and semiempirical calculations. The present Mg"+ cross sections and Zn"+ cross sections from earlier measurements are tabulated.

14

Confirmation of quantitative trait loci for resistance to multiple-HG types of soybean cyst nematode (Heterodera glycines Ichinohe)  

British Library Electronic Table of Contents (United Kingdom)

Genetic analysis of resistance of plant introduction (PI) 438489B to soybean cyst nematode (SCN) have shown that this PI is highly resistant to many SCN HG types. However, validation of the previously detected quantitative trait loci (QTL) has not been done. In this study, 250 F2:3 progeny of a Magellan (susceptible)??PI 438489B (resistant) cross were used for primary genetic mapping to detect putative QTL for resistance to five SCN HG types. QTL confirmation study was subsequently conducted using F6:7 recombinant inbred lines (RILs) derived from the same cross. Simple sequence repeat (SSR) and single nucleotide polymorphism (SNP) markers were employed for molecular genotyping. Interval mapping (IM), permutation tests, cofactor selection, and composite interval mapping (CIM) were performe...

2011-01-01

15

Resistance to powdery mildew in Spanish barley landraces is controlled by different sets of quantitative trait loci.  

Science.gov (United States)

Twenty-two landrace-derived inbred lines from the Spanish Barley Core Collection (SBCC) were found to display high levels of resistance to a panel of 27 isolates of the fungus Blumeria graminis that exhibit a wide variety of virulences. Among these lines, SBCC145 showed high overall resistance and a distinctive spectrum of resistance compared with the other lines. Against this background, the main goal of the present work was to investigate the genetic basis underlying such resistance using a doubled haploid population derived from a cross between SBCC145 and the elite spring cultivar Beatrix. The population was genotyped with the 1,536-SNP Illumina GoldenGate Oligonucleotide Pool Assay (Barley OPA-1 or BOPA1 for short), whereas phenotypic analysis was performed using two B. graminis isolates. A major quantitative trait locus (QTL) for resistance to both isolates was identified on the long arm of chromosome 6H (6HL) and accounted for ca. 60% of the phenotypic ...

2011-07-08