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- Hardenbol, Paul, et al.
(författare)
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Multiplexed genotyping with sequence-tagged molecular inversion probes
- 2003
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Ingår i: Nature Biotechnology. - : Springer Science and Business Media LLC. - 1087-0156 .- 1546-1696. ; 21:6, s. 673-8
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Tidskriftsartikel (refereegranskat)abstract
- We report on the development of molecular inversion probe (MIP) genotyping, an efficient technology for large-scale single nucleotide polymorphism (SNP) analysis. This technique uses MIPs to produce inverted sequences, which undergo a unimolecular rearrangement and are then amplified by PCR using common primers and analyzed using universal sequence tag DNA microarrays, resulting in highly specific genotyping. With this technology, multiplex analysis of more than 1,000 probes in a single tube can be done using standard laboratory equipment. Genotypes are generated with a high call rate (95%) and high accuracy (>99%) as determined by independent sequencing.
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- Rakov, Vladimir A., et al.
(författare)
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M-component mode of charge transfer to ground in lightning discharges
- 2001
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Ingår i: Journal of Geophysical Research - Atmospheres. - 2169-897X .- 2169-8996. ; 106:D19, s. 22817-22831
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Tidskriftsartikel (refereegranskat)abstract
- The M-component mode of charge transfer to ground is examined using (1) multiple-station measurements of electric and magnetic fields at distances ranging from 5 to ∌ 500 m from triggered-lightning channels and (2) measured currents at the channel base. Data have been obtained in 1997, 1999, and 2000 at the International Center for Lightning Research and Testing at Camp Blanding, Florida, for (1) “classical†M-components that occur during the continuing currents following return strokes and (2) impulsive processes that occur during the initial stage of rocket-triggered lightning and are similar to the “classical†M components. All lightning events considered here effectively transported negative charge to ground. For one triggered-lightning event the electric field 45 km from the lightning channel was measured together with the current and close fields. The shapes and magnitudes of the measured close electric and magnetic fields are generally consistent with the guided-wave mechanism of the lightning M component. Specifically, the M-component electric field peak exhibits logarithmic distance dependence, ln(kr−1), which is indicative of a line charge density that is zero at ground and increases with height. Such a distribution of charge is distinctly different from the more or less uniform charge density that is characteristic of the dart leaders in triggered lightning, as inferred from close electric field measurements. The M-component magnetic field peak decreases as the inverse distance (i.e., r−1), which is generally consistent with a uniform current within the lowest kilometer or so of channel. The M-component electric field at 45 km appeared as a bipolar, microsecond-scale pulse that started prior to the onset of the M-component current at the channel base. M-component-type processes can produce acoustic signals with peak pressure values of the same order of magnitude as those from the leader/return stroke sequences in triggered lightning.
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- Ronco, Claudio, et al.
(författare)
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Blood flow distribution in sorbent beds : analysis of a new sorbent device for hemoperfusion
- 2000
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Ingår i: International Journal of Artificial Organs. - 0391-3988 .- 1724-6040. ; 23:2, s. 125-130
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Tidskriftsartikel (refereegranskat)abstract
- A new polymer-based sorbent cartridge has been recently developed for enhancing middle molecule removal during hemodialysis. The cartridge (Betasorb, Renaltech, New York, USA) has been designed to be placed in series with the dialyzer in the blood circuit. It is therefore important to evaluate the distribution of flow into the blood compartment of the device in order to assess if the surface of the sorbent is utilized to the best. For this purpose, a special imaging technique was utilized. Cartridges were analyzed during a simulated in vitro circulation at 250 and 350 ml/min of blood flow and 25% and 40% hematocrit. Cartridges were placed in vertical position and a cross longitudinal section 1 cm thick was analyzed in sequence by a helical scanner. Dye was injected into the arterial inlet and the progressive distribution was evaluated by sequential densitometrical measures carried out automatically by the machine. The sequential images analyzed by the scanner demonstrated excellent distribution of the flow in the blood compartment with minimal difference between the central and the peripheral regions of the compartment. In particular the following flow velocity pattern could be observed under the different experimental conditions tested. We may conclude that the cartridge design is adequate and no channelling effects could be detected in the blood compartment. The flow distribution is slightly affected by changes in flow rate and hematocrit showing an optimal utilization of the available surface for molecule adsorption.
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- Astuti, D, et al.
(författare)
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Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
- 2001
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 69:1, s. 49-54
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Tidskriftsartikel (refereegranskat)abstract
- The pheochromocytomas are an important cause of secondary hypertension. Although pheochromocytoma susceptibility may be associated with germline mutations in the tumor-suppressor genes VHL and NF1 and in the proto-oncogene RET, the genetic basis for most cases of nonsyndromic familial pheochromocytoma is unknown. Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations. Germline SDHD mutations were originally described in hereditary paraganglioma, a dominantly inherited disorder characterized by vascular tumors in the head and the neck, most frequently at the carotid bifurcation. The gene products of two components of succinate dehydrogenase, SDHC and SDHD, anchor the gene products of two other components, SDHA and SDHB, which form the catalytic core, to the inner-mitochondrial membrane. Although mutations in SDHC and in SDHD may cause hereditary paraganglioma, germline SDHA mutations are associated with juvenile encephalopathy, and the phenotypic consequences of SDHB mutations have not been defined. To investigate the genetic causes of pheochromocytoma, we analyzed SDHB and SDHC, in familial and in sporadic cases. Inactivating SDHB mutations were detected in two of the five kindreds with familial pheochromocytoma, two of the three kindreds with pheochromocytoma and paraganglioma susceptibility, and 1 of the 24 cases of sporadic pheochromocytoma. These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility.
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