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1.
Nat Rev Genet ; 15(6): 367-78, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24733023

RESUMO

Genes on the mammalian X chromosome are present in one copy in males and two copies in females. The complex mechanisms that regulate the X chromosome lead to evolutionary and physiological variability in gene expression between species, the sexes, individuals, developmental stages, tissues and cell types. In early development, delayed and incomplete X chromosome inactivation (XCI) in some species causes variability in gene expression. Additional diversity stems from escape from XCI and from mosaicism or XCI skewing in females. This causes sex-specific differences that manifest as differential gene expression and associated phenotypes. Furthermore, the complexity and diversity of X dosage regulation affect the severity of diseases caused by X-linked mutations.


Assuntos
Transtornos Cromossômicos , Cromossomos Humanos X , Regulação da Expressão Gênica , Doenças Genéticas Ligadas ao Cromossomo X , Caracteres Sexuais , Inativação do Cromossomo X , Animais , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/metabolismo , Cromossomos Humanos X/genética , Cromossomos Humanos X/metabolismo , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/metabolismo , Humanos , Masculino , Mosaicismo
2.
Biosens Bioelectron ; 17(6-7): 573-84, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11959480

RESUMO

Surface plasmon resonance (SPR) biosensors offer the capability for continuous real-time monitoring. The commercial instruments available have been large in size, expensive, and not amenable to field applications. We report here an SPR sensor system based on a prototype two-channel system similar to the single channel Spreeta devices. This system is an ideal candidate for field use. The two-channel design provides a reference channel to compensate for bulk refractive index (RI), non-specific binding and temperature variations. The SPR software includes a calibration function that normalizes the response from both channels, thus enabling accurate referencing. In addition, a temperature-controlled enclosure utilizing a thermo-electric module based on the Peltier effect provides the temperature stability necessary for accurate measurements of RI. The complete SPR sensor system can be powered by a 12V battery. Pre-functionalized, disposable, gold-coated thin glass slides provide easily renewable sensor elements for the system. Staphylococcus aureus enterotoxin B (SEB), a small protein toxin was directly detectable at sub-nanomolar levels and with amplification at femtomolar levels. A regeneration procedure for the sensor surface allowed for over 60 direct detection cycles in a 1-month period.


Assuntos
Enterotoxinas/análise , Imunoensaio/instrumentação , Imunoensaio/métodos , Ressonância de Plasmônio de Superfície/instrumentação , Ressonância de Plasmônio de Superfície/métodos , Animais , Técnicas Biossensoriais/instrumentação , Técnicas Biossensoriais/métodos , Materiais Revestidos Biocompatíveis/química , Enterotoxinas/imunologia , Desenho de Equipamento , Vidro/química , Cabras , Ouro/química , Microquímica , Leite/química , Miniaturização , Modelos Teóricos , Coelhos , Água do Mar/química , Sensibilidade e Especificidade , Temperatura , Fatores de Tempo , Urina/química
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