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1.
Hastings Cent Rep ; 48 Suppl 2: S39-S41, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30133728

RESUMO

The possible integration of genomic sequencing (including whole-genome and whole-exome sequencing) into the three contexts addressed in this special report-state-mandated screening programs, clinical care, and direct-to-consumer services-raises related but distinct legal issues. This essay will outline the legal issues surrounding the integration of genomic sequencing into state newborn screening programs, parental rights to refuse and access sequencing for their newborns in clinical and direct-to-consumer care, and privacy-related legal issues attending the use of sequencing in newborns.


Assuntos
Testes Genéticos/legislação & jurisprudência , Triagem Neonatal/legislação & jurisprudência , Triagem Neonatal/métodos , Sequenciamento Completo do Genoma/normas , Confidencialidade , Testes Genéticos/ética , Humanos , Recém-Nascido , Triagem Neonatal/ética , Pais/psicologia , Estados Unidos , Sequenciamento Completo do Genoma/ética
2.
Pediatrics ; 137 Suppl 1: S8-15, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26729704

RESUMO

State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ∼30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expand, the question of whether WGS has a role to play in state NBS programs becomes increasingly relevant and complex. As geneticists and state public health officials begin to contemplate the technical and procedural details of whether WGS could benefit existing NBS programs, this is an opportune time to revisit the legal framework of state NBS programs. In this article, we examine the constitutional underpinnings of state-mandated NBS and explore the range of current state statutes and regulations that govern the programs. We consider the legal refinements that will be needed to keep state NBS programs within constitutional bounds, focusing on 2 areas of concern: consent procedures and the criteria used to select new conditions for NBS panels. We conclude by providing options for states to consider when contemplating the use of WGS for NBS.


Assuntos
Testes Genéticos/legislação & jurisprudência , Sequenciamento de Nucleotídeos em Larga Escala , Triagem Neonatal/legislação & jurisprudência , Governo Estadual , Exoma/genética , Predisposição Genética para Doença , Genoma Humano/genética , Política de Saúde , Humanos , Recém-Nascido , Consentimento Livre e Esclarecido/legislação & jurisprudência , Testes Obrigatórios/legislação & jurisprudência , Análise de Sequência de DNA , Estados Unidos
3.
Funct Plant Biol ; 36(9): 770-782, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32688687

RESUMO

The objective of this study was to characterise photosynthesis in terrestrial non-Kranz (NK) C4 species, Bienertia sinuspersici Akhani and Suaeda aralocaspica (Bunge) Freitag & Schütze (formerly Borszczowia aralocaspica), compared with closely related Kranz type C4 Suaeda eltonica Iljin and Suaeda taxifolia Standley, and C3 species Suaeda heterophylla Bunge and Suaeda maritima Dumort in subfamily Suaedoideae (Chenopodiaceae). Traditional Kranz type C4 photosynthesis has several advantages over C3 photosynthesis under certain environmental conditions by suppressing photorespiration. The different photosynthetic types were evaluated under varying levels of CO2 and light at 25°C. Both NK and Kranz type species had C4 type CO2 compensation points (corrected for dark-type respiration) and half maximum saturation of photosynthesis at similar levels of atmospheric CO2 (average of 145 µbar for the C4 species v. 330 µbar CO2 for C3 species) characteristic of C4 photosynthesis. CO2 saturated rates of photosynthesis per unit chlorophyll was higher in the C3 (at ~2.5 current ambient CO2 levels) than the C4 species, which is likely related to their higher Rubisco content. The amount of Rubisco as a percentage of total protein was similar in NK and Kranz type species (mean 10.2%), but much lower than in the C3 species (35%). Light saturated rates of CO2 fixation per unit leaf area at 25°C and 340 µbar CO2 were higher in the Kranz species and the NK C4 S. aralocaspica than in the C3 species. In response to light at 340 µbar CO2, there was a difference in rates of photosynthesis per unit Rubisco with NK > Kranz > C3 species. There were no significant differences between the three photosynthetic types in maximum quantum yields, convexity of light response curves, and light compensation points at 25°C. The water use efficiency (CO2 fixed per water transpired) at 340 µbar CO2, 25°C and 1000 µmol quanta m-2 s-1 was on average 3-fold higher in the C4 (NK and Kranz) compared with the C3 species. The results show that the NK species have several C4 traits like the Kranz type species in subfamily Suaedoideae.

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