RESUMEN
Inflammatory pseudotumour (IPT) is an uncommon disease with undefined pathogenesis. It is often characterized by local aggressiveness with compressive and displacing effects on surrounding structures. It may appear in different regions of the body, rarely involving perineural structures unilaterally. We present a case of a bilateral IPT around trigeminal branches in a patient with a long-term history of periorbital swelling and proptosis.
Asunto(s)
Exoftalmia/patología , Granuloma de Células Plasmáticas/diagnóstico , Nervio Trigémino/patología , Adulto , Diagnóstico Diferencial , Granuloma de Células Plasmáticas/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in others, a second unidentified LI gene was mapped to chromosome 2q33-35 (ICR2B locus). In this study, we present a physical map that encompasses the ICR2B locus, including the mapping of new microsatellite markers. Based on this new map, genotyping additional families highly suggests a reduction in size of the candidate interval. The final interval is covered by a single yeast artificial chromosome (937-H-3) which is 2.2Mb in length. Fine mapping of potential candidate transcripts was also focused on this region.
Asunto(s)
Cromosomas Humanos Par 2 , Ictiosis Lamelar/genética , Mapeo Físico de Cromosoma , Cromosomas Artificiales de Levadura , Femenino , Fibronectinas/genética , Humanos , Masculino , LinajeRESUMEN
Chromosomal assignment and analysis of chimerism of 22 YACs was performed by FISH. Probes were obtained by PCR amplification of the human YAC inserts with Alu primers. Maximum amplification of various inter-Alu elements was obtained when the primer annealing temperature was below the optimal temperature needed for high specificity. In these conditions, yeast DNA contributed to the amplification of various Alu-PCR products and, since strong competition was required for the suppression of all Alu sequences, yeast Alu-PCR products fulfilled this purpose efficiently.
Asunto(s)
Cromosomas Artificiales de Levadura , ADN de Hongos/genética , Secuencias Repetitivas de Ácidos Nucleicos , Saccharomyces cerevisiae/genética , Secuencia de Bases , Mapeo Cromosómico/métodos , Humanos , Hibridación Fluorescente in Situ , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa/métodosRESUMEN
We have characterized 11 overlapping yeast artificial chromosomes (YACs) in the 1p13 region, 8 of them containing the human nerve growth factor (NGF) gene (HGMW-approved symbol NGFB). Sequence-tagged sites (STSs) corresponding to YAC extremities have been designed and used for chromosome assignment on a panel of monochromosomic somatic cell hybrids to check for YAC chimerism, in parallel with analyses by fluorescence in situ hybridization. Determination of end STS content and restriction mapping of the YACs led to the construction of a 3-Mb YAC contig. Four microsatellite markers from the Généthon collection and seven genes known to map to the 1p13 region have been ordered on the contig around the NGF gene. A new gene transcript from the Genexpress catalog has been localized on the contig. This work provides an integrated physical, genetic, and genic map of this chromosome 1 region. It constitutes a basis for determining the structure of the NGF gene and for further characterizing its genic environment.