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1.
Am J Hum Genet ; 64(4): 1110-8, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10090896

RESUMO

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and by Ashkenazi Jewish ancestry. We previously had mapped the defective gene (DYS) to an 11-cM segment of chromosome 9q31-33, flanked by D9S53 and D9S105. By using 11 new polymorphic loci, we now have narrowed the location of DYS to <0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and D9S1677, show no recombination with the disease. Haplotype analysis confirmed this candidate region and revealed a major haplotype shared by 435 of 441 FD chromosomes, indicating a striking founder effect. Three other haplotypes, found on the remaining 6 FD chromosomes, might represent independent mutations. The frequency of the major FD haplotype in the Ashkenazim (5 in 324 control chromosomes) was consistent with the estimated DYS carrier frequency of 1 in 32, and none of the four haplotypes associated with FD was observed on 492 non-FD chromosomes from obligatory carriers. It is now possible to provide accurate genetic testing both for families with FD and for carriers, on the basis of close flanking markers and the capacity to identify >98% of FD chromosomes by their haplotype.


Assuntos
Doenças do Sistema Nervoso Autônomo/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 9/genética , Ligação Genética/genética , Haplótipos/genética , Alelos , Feminino , Efeito Fundador , Frequência do Gene/genética , Marcadores Genéticos/genética , Testes Genéticos , Variação Genética/genética , Heterozigoto , Humanos , Judeus/genética , Desequilíbrio de Ligação/genética , Masculino , Mutação/genética , Linhagem , Polimorfismo Genético/genética , Recombinação Genética/genética
2.
Nature ; 377(6548): 404-6, 1995 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-7566115

RESUMO

The properties of the Moon's rarefied atmosphere, which can be traced through observations of sodium and potassium, provide important insights into the formation and maintenance of atmospheres on other primitive Solar System bodies. The lunar atmosphere is believed to be composed of atoms from the surface rocks and soil, which might have been sputtered by micrometeorites, by ions in the solar wind, or by photons. It might also form by the evaporation of atoms from the hot, illuminated surface. Here we report the detection of sodium emission from the Moon's atmosphere during a total lunar eclipse (which occurs when the Moon is full). The sodium atmosphere is considerably more extended at full Moon than expected--it extends to at least nine lunar radii--and its brightness distribution is incompatible with sources involving either solar-wind or micrometeorite sputtering. This leaves photon sputtering or thermal desorption as the preferred explanations for the lunar atmosphere, and suggests that sunlight might also be responsible for the transient atmospheres of other primitive bodies (such as Mercury).


Assuntos
Meio Ambiente Extraterreno , Lua , Planeta Mercúrio , Sódio/análise
3.
Science ; 261(5118): 184-6, 1993 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-17829272

RESUMO

Atomic sodium is a useful tracer of the tenuous lunar atmosphere because of its high efficiency in scattering sunlight at the D(1) (5896 angstroms) and D(2) (5890 angstroms) wavelengths. In 1988, Earth-based instruments revealed the presence of sodium at a density of less than 50 atoms per cubic centimeter at lunar altitudes below 100 kilometers. Telescopic observations that are made with a coronograph technique to block out the disk of the moon allow a true picture of the circumiunar atmosphere to be obtained and show the presence of sodium out to a distance of several lunar radii. The distribution of sodium has a solar zenith angle dependence, suggesting that most of the sodium that reaches great altitudes is liberated from the moon's surface by solar photons (by heating or sputtering) or by solar wind impact, in contrast to a source driven by uniform micrometeor bombardment.

4.
Science ; 257(5076): 1510-2, 1992 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-17776158

RESUMO

Jupiter's great sodium nebula represents the largest visible structure traversed by the Ulysses spacecraft during its encounter with the planet in February 1992. Ground-based imaging conducted on Mount Haleakala, Hawaii, revealed a nebula that extended to at least +/-300 Jovian radii (spanning approximately 50 million kilometers); it was somewhat smaller in scale and less bright than previously observed. Analysis of observations and results of modeling studies suggest reduced volcanic activity on the moon lo, higher ion temperatures in the plasma torus, lower total plasma content in the torus, and fast neutral atomic clouds along the Ulysses inbound trajectory through the magnetosphere. Far fewer neutrals were encountered by the spacecraft along its postencounter, out-of-ecliptic trajectory.

5.
Science ; 238(4831): 1260-4, 1987 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-17744364

RESUMO

The Spacelab-2 Plasma Depletion Experiments were a series of studies to examine shuttle-induced perturbations in the ionosphere and their application to ground-based radio astronomy. The space shuttle Challenger fired its orbital maneuvering subsystem engines on 30 July and 5 August 1985, releasing large amounts of exhaust molecules (water, hydrogen, and carbon dioxide) that caused the electrons and ions in Earth's upper atmosphere to chemically recombine, thereby creating so-called "ionospheric holes." Two burns conducted over New England produced ionospheric peak depletions ranging from 25 to 50 percent, affected the ionosphere over a 200-kilometer altitude range, and covered 1 degrees to 2 degrees of latitude. Optical emissions associated with the hole spanned an area of several hundred thousand square kilometers. A third burn was conducted over a low-frequency radio observatory in Hobart, Australia, to create an "artificial window" for ground-based observations at frequencies normally below the natural ionospheric cutoff (penetration) frequency. The Hobart experiment succeeded in making high-resolution observations at 1.7 megahertz through the induced ionospheric hole.

6.
Science ; 187(4174): 343-6, 1975 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-17814266

RESUMO

A dramatic ionospheric phenomenon, unique in magnitude and in spatial and temporal extent, occurred along the Atlantic Coast of North America after the launch of the NASA Skylab Workshop on 14 May 1973. The effect was a large and rapid decrease in the total number of ionospheric electrons within a distance of 1000 kilometers of the burning engines of the Saturn V launch vehicle. The observations are interpreted in terms of exceptionally enhanced chemical loss rates due to the molecular hydrogen and water vapor contained in the Saturn second-stage exhaust plume.

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