RESUMEN
Intrachromosomal amplification of chromosome 21 (iAMP21) occurs in â¼2% of B-cell acute lymphoblastic leukemia (ALL) and is considered to confer a poor prognosis. The relapse risk is associated with therapy intensity, suggesting that other somatic mutations may influence iAMP21-ALL prognosis. This abnormality is characterized by multiple copies of the RUNX1 gene in chromosome 21 and appears to arise through multiple breakage-fusion bridge cycles and chromothripsis. Rob(15;21) or a ring chromosome 21 have been associated with an increased risk for iAMP21-ALL, suggesting that constitutional genetic abnormalities may also drive leukemogenesis. Here we describe homozygous deletion of the SH2B3 gene, chromothripsis of chromosome 21, and a non-Robertsonian somatic t(15;21)(q25.3;q22.1) with NTRK3 gene rearrangement in an adolescent with iAMP21-B-ALL. Molecular cytogenetic studies detected iAMP21 with aCGH analysis revealing further genomic imbalances. The RT-qPCR analysis detected elevated expression levels of RUNX1 (68-fold) and reduced expression of CDK6 (0.057-fold). Studies with constitutive cells collected from mouth swabs showed that SH2B3 biallelic deletion was a somatic alteration occurring during clonal evolution. The identification of novel secondary genetic changes was valuable to discuss sporadic iAMP21 leukemogenic mechanisms. For the first time, we show a t(15;21)(q25.3;q22.1) with NTRK3 rearrangement in an adolescent with iAMP21-ALL.
Asunto(s)
Linfoma de Burkitt , Cromotripsis , Leucemia-Linfoma Linfoblástico de Células Precursoras , Cromosomas en Anillo , Adolescente , Linfoma de Burkitt/genética , Cromosomas Humanos Par 21/genética , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Homocigoto , Humanos , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Células Precursoras de Linfocitos B , Eliminación de Secuencia , Translocación GenéticaRESUMEN
Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.
Asunto(s)
Anomalías Congénitas/genética , Discapacidad Intelectual/genética , Adolescente , Adulto , Brasil , Niño , Preescolar , Femenino , Dosificación de Gen , Humanos , Lactante , Masculino , Reacción en Cadena de la Polimerasa MultiplexRESUMEN
Knowledge of genetic diversity and relationships between breeds is very important for conservation programs. Hair samples were collected from 393 individual Nordestino horses and genotyped using 14 microsatellite markers in order to investigate the genetic relationship between this breed and 66 international horse breeds. There was high allelic diversity and inbreeding coefficient within population values were not significant, which was probably due to crossbreeding. Despite the Nordestino horse population being in Hardy-Weinberg equilibrium, a global deficit of heterozygotes was observed. This may represent evidence of repeated use of the same stallions for breeding, which is consistent with the high number of castrated males found. Campolina, Mangalarga Marchador, and Mangalarga were the Brazilian horse breeds most closely related to the Nordestino horse, which is a reflection of recent introgressions. Among Iberian horse breeds, the Sorraia breed appears to have had an important influence on the genetics of the Nordestino horse. Those results provide important information that can guide future conservation programs.
Asunto(s)
Cruzamiento , Caballos/genética , Filogenia , Animales , Femenino , Marcadores Genéticos , Heterocigoto , Caballos/clasificación , Masculino , Repeticiones de MicrosatéliteAsunto(s)
Adolescente , Adulto , Persona de Mediana Edad , Humanos , Masculino , Femenino , Úlcera Péptica , Vagotomía Gástrica ProximalRESUMEN
Visando o estudo do fechamento do coto duodenal, efetuou-se gastrectomia a BII, em 48 caes, que foram distribuidos igualmente em dois planos. No grupo 1 realizou-se a sutura do coto em um plano extramucoso e no grupo 2 em dois planos (total eseromuscular). Os animais de ambos o grupos foram distribuidos em seis subgrupos (com quatro unidades cada) correspondentes aos dias de sacrificio que foram o 1o., 4o., 7o., 14o., 21o. e 28. dia pos-operatorio. Foram analisados comparativamente os resultados da medida da resistencia tensil a distensao gasosa dos cotos duodenais. Este estudo mostrou resistencia tensil semelhante nos dois grupos estudados.