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61.
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes 总被引:5,自引:0,他引:5
Shuber AP; Michalowsky LA; Nass GS; Skoletsky J; Hire LM; Kotsopoulos SK; Phipps MF; Barberio DM; Klinger KW 《Human molecular genetics》1997,6(3):337-347
As more mutations are identified in genes of known sequence, there is a
crucial need in the areas of medical genetics and genome analysis for
rapid, accurate and cost-effective methods of mutation detection. We have
developed a multiplex allele-specific diagnostic assay (MASDA) for analysis
of large numbers of samples (> 500) simultaneously for a large number of
known mutations (> 100) in a single assay. MASDA utilizes
oligonucleotide hybridization to interrogate DNA sequences. Multiplex DNA
samples are immobilized on a solid support and a single hybridization is
performed with a pool of allele-specific oligonucleotide (ASO) probes. Any
probes complementary to specific mutations present in a given sample are in
effect affinity purified from the pool by the target DNA. Sequence-specific
band patterns (fingerprints), generated by chemical or enzymatic sequencing
of the bound ASO(s), easily identify the specific mutation(s). Using this
design, in a single diagnostic assay, we tested samples for 66 cystic
fibrosis (CF) mutations, 14 beta-thalassemia mutations, two sickle cell
anemia (SCA) mutations, three Tay-Sachs mutations, eight Gaucher mutations,
four mutations in Canavan disease, four mutations in Fanconi anemia, and
five mutations in BRCA1. Each mutation was correctly identified. Finally,
in a blinded study of 106 of these mutations in > 500 patients, all
mutations were properly identified. There were no false positives or false
negatives. The MASDA assay is capable of detecting point mutations as well
as small insertion or deletion mutations. This technology is amenable to
automation and is suitable for immediate utilization for high-throughput
genetic diagnostics in clinical and research laboratories.
相似文献
62.
Monte Carlo simulations were used to optimize the geometry of a mammography anti-scatter linear grid to achieve minimum scatter-to-primary ratio (SPR) for different X-ray tube voltages. A single optimum design of the grid with 0.9 mm septa height, 12 μm septa thickness and 100 μm interspace thickness was found for breast phantom thicknesses between 30 and 80 mm. The optimal grid has 0.153–0.330 scatter-to-primary ratio, a Bucky factor (BF) less than 2.5 and a contrast improvement factor (CIF) of 1.3. 相似文献
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Vishnu Prasad Pulappadi Smita Manchanda Pritviraj SK Smriti Hari 《The British journal of radiology》2021,94(1117)
Corpus luteum rupture presenting as acute abdomen is an underdiagnosed condition. Though a self-limiting entity, its differentiation from other causes is essential to prevent unnecessary surgical procedures. The radiologist should be aware of the possibility of a ruptured haemorrhagic ovarian cyst in a female of reproductive age group presenting with pelvic pain and a large amount of haemorrhagic ascites. Imaging characteristically reveals a thick-walled cystic structure in the adnexa with internal echoes, focal discontinuity or irregularity of its wall with haemoperitoneum. While sonography is usually indicative of corpus luteum rupture, cross-sectional imaging (CT/MRI) can be used to confirm the diagnosis. 相似文献
65.
A.A. Naqvi M.A. Garwan M. Maslehuddin M.M. Nagadi O.S.B. Al-Amoudi M. Raashid 《Applied radiation and isotopes》2010,68(4-5):635-638
Pozzolanic materials are added to Portland cement concrete to increase its durability, particularly corrosion-resistance. In this study the elemental composition of a pozzolanic cement concrete was measured non-destructively utilizing an accelerator-based Prompt Gamma Ray Neutron Activation Analysis (PGNAA) setup. The optimum size of the pozzolanic cement concrete specimen was obtained through Monte Carlo simulations. The simulation results were experimentally verified through the γ-ray yield measurement from the pozzolanic cement concrete specimens as a function of their radii. The concentration of the pozzolanic material in the cement concrete specimens was evaluated by measuring γ-ray yield for calcium and iron from pozzolanic cement concrete specimens containing 5–80 wt% pozzolan. A good agreement was noted between the experimental values and the Monte Carlo simulation results, indicating an excellent response of the KFUPM accelerator-based PGNAA setup for pozzolan based concrete. 相似文献
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The magnetic resonance (MR) images of six patients with thrombosis of a dural sinus were reviewed. The diagnosis had been verified by computed tomographic scans in three patients and arteriograms in two; in the sixth patient, only MR imaging was used to confirm the clinical syndrome. In all patients, high-intensity signal was seen from the thrombus within the affected dural sinus on all echoes. This persistent signal intensity allowed intravascular clot to be distinguished from normal causes of increased signal such as flow-related enhancement (entry phenomenon) and even-echo rephasing. MR imaging demonstrated the cause of the thrombosis in three patients: two were secondary to adjacent tumors, and one was secondary to unsuspected mastoiditis. Complications such as infarction were also demonstrated. Using MR imaging, one can easily and safely diagnose thrombosis of a dural sinus. MR should be the imaging method of choice in patients suspected of having thrombosis of a dural sinus. 相似文献
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Measurement of chlorine in concrete is very important for studying of corrosion of reinforcing steel in concrete. Corrosion of reinforcing steel is primarily ascribed to the penetration of chloride ions to the steel surface. Preventive measures for avoiding concrete structure reinforcement corrosion requires monitoring the chloride ion concentration in concrete so that its concentration does not exceed a threshold limit to initiate reinforcement concrete corrosion. An accelerator based prompt gamma neutron activation analysis (PGNAA) setup has been developed for non-destructive analysis of elemental composition of concrete samples. The setup has been used to measure chlorine concentration in concrete samples over a 1-3 wt% concentration range. Although a strong interference has been observed between the chlorine gamma-rays and calcium gamma-rays from concrete, the chlorine concentration in concrete samples has been successfully measured using the 1.164 and 7.643 MeV chlorine gamma-rays. The experimental data were compared with the results of the Monte Carlo simulations. An excellent agreement has been achieved between the experimental data and results of Monte Carlo simulations. The study has demonstrated the successful use of the accelerator-based PGNAA setup in non-destructive analysis of chlorine in concrete samples. 相似文献