RESUMEN
Illumina first introduced their TruSight human leucocyte antigen (HLA) next-generation sequencing (NGS) typing kit in 2015 and subsequently followed up with a new version in 2016. Here we report on our experience comparing the two versions of the Illumina HLA NGS kits.
Asunto(s)
Técnicas de Genotipaje , Antígenos HLA/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Prueba de Histocompatibilidad , Juego de Reactivos para Diagnóstico , Técnicas de Genotipaje/instrumentación , Técnicas de Genotipaje/métodos , Secuenciación de Nucleótidos de Alto Rendimiento/instrumentación , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Prueba de Histocompatibilidad/instrumentación , Prueba de Histocompatibilidad/métodos , HumanosRESUMEN
An integrated and coordinated set of programs has been established to meet ICBG goals in Papua New Guinea (PNG). Here we give an overview of the PNG ICBG and focus on the key elements and major steps taken to establish a program necessary for the pharmacological assessment of botanicals and traditional medicines in PNG and, by extrapolation, in other developing countries.
RESUMEN
Nitric oxide (NO) plays an important role in host resistance to infection with a variety of organisms. Two recent reports from Gabon and Gambia identified associations of malaria disease severity with the inducible NO synthase (NOS2) promoter G-954C and short allele (<11 repeats) pentanucleotide microsatellite polymorphisms, respectively. It was postulated that there would be a correlation of these polymorphisms with malaria disease severity and with measures of NO production in our cohort of Tanzanian children with malaria. In Tanzanian children, 15% were heterozygous or homozygous for the G-954C polymorphism, and 13% had the short-allele microsatellite polymorphism. There was no significant correlation of either polymorphism with disease severity or with measures of NO production and NOS2 expression. Black and white Americans differed significantly in the frequencies of these polymorphisms. The various association of these gene polymorphisms with malaria severity in different populations underscores the complexity of host resistance to malaria.
Asunto(s)
Malaria Cerebral/metabolismo , Malaria Falciparum/metabolismo , Óxido Nítrico Sintasa/genética , Óxido Nítrico/biosíntesis , Polimorfismo Genético , Regiones Promotoras Genéticas/genética , Alelos , Población Negra/genética , Niño , Preescolar , Frecuencia de los Genes , Humanos , Lactante , Malaria Cerebral/genética , Malaria Cerebral/inmunología , Malaria Falciparum/genética , Malaria Falciparum/inmunología , Repeticiones de Microsatélite , Nitratos/sangre , Nitratos/orina , Óxido Nítrico Sintasa/metabolismo , Óxido Nítrico Sintasa de Tipo II , Índice de Severidad de la Enfermedad , Tanzanía , Población Blanca/genéticaRESUMEN
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease characterized by the development of multiple parathyroid adenomas and multiple fibro-osseous tumors of the maxilla and mandible. Some families have had affected members with involvement of the kidneys, variously reported as Wilms tumors, nephroblastomas, and hamartomas. The HPT-JT gene (HRPT2) maps to chromosome 1q25-q31. We describe further investigation of two HPT-JT families (K3304 and K3349) identified through the literature. These two expanded families and two previously reported families were investigated jointly for linkage with 21 new, closely linked markers. Multipoint linkage analysis resulted in a maximum LOD score of 7.83 (at recombination fraction 0) for markers D1S2848-D1S191. Recombination events in these families reduced the HRPT2 region to approximately 14.7 cM. In addition, two of these four study families (i.e., K3304 and K11687) share a 2.2-cM length of their (expanded) affected haplotype, indicating a possible common origin. Combining the linkage data and shared-haplotype data, we propose a 0.7-cM candidate region for HRPT2.
Asunto(s)
Adenoma/genética , Cromosomas Humanos Par 1 , Hiperparatiroidismo/genética , Neoplasias Mandibulares/genética , Neoplasias Maxilares/genética , Neoplasias de las Paratiroides/genética , Mapeo Cromosómico , ADN de Neoplasias , Femenino , Marcadores Genéticos , Humanos , Masculino , Linaje , SíndromeRESUMEN
In this paper we have investigated via x-ray diffraction the influence of dimethyl sulfoxide (DMSO), known for its biological and therapeutic properties, on the structure of lipid membranes of dipalmitoylphosphatidylcholine (DPPC) in excess of the solvent (DMSO/water) at mole DMSO fractions XDMSO in (0.1) and under equilibrium conditions. At small XDMSO
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Dimetilsulfóxido/farmacología , Membrana Dobles de Lípidos/química , 1,2-Dipalmitoilfosfatidilcolina/química , Geles/química , Conformación Molecular , Temperatura , Agua/química , Difracción de Rayos XRESUMEN
Mycoplasma arthritidis, an agent of chronic proliferative arthritis of rodents, secretes a potent soluble superantigen, MAM, that is active for both murine and human T and B lymphocytes. We now report the complete nucleotide and amino acid sequence of MAM and show it to be distinct from other proteins and not closely related phylogenetically to other superantigens. Two functional domains on MAM are identified based on the ability of peptides encompassing these regions to inhibit lymphocyte proliferation by the intact MAM molecule. One of these domains shares short sequences or epitopes with other microbial superantigens. The second domain contains the consensus legume lectin motif-beta, which is important for T cell activation by concanavalin (Con) A. MAM and Con A peptides containing this motif are functionally cross reactive, suggesting a novel secondary pathway for T cell activation by MAM.
