RESUMEN
We applied fluorescence in situ hybridization (FISH) to assess the presence of structural rearrangement and numerical chromosome aberrations in both metaphase chromosome and interphase nuclei. For this purpose, the biotinylated repetitive alpha-satellite DNA probes for chromosome 1, 18 and 8 (pUC1.77, L1.84 and pJM128) were used to identify tetraploid mosaicism, ring chromosome 18 and trisomy 8 mosaicism for pre-, post-natal and tumor diagnosis respectively. Utilizing this approach, we showed the usefulness of FISH for routine clinical cytogenetics in addition to chromosome banding techniques. The chromosome aberrations with unknown or unclear origin, detected by chromosome analysis, could be confirmed accurately and rapidly.
Asunto(s)
Adolescente , Adulto , Preescolar , Aberraciones Cromosómicas , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 8 , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino , Sensibilidad y EspecificidadRESUMEN
The BCR/ABL fusion gene in 31 patients with chronic myeloid leukemia (CML) was detected by RT/PCR. In 18 cases of Ph' positive patients, 13 had BCR 3/ABL II rearrangement, 1 had BCR 2/ABL II rearrangement and 4 had both rearrangements. One case with complex translocation: 46,XY,t(9;9;22), had BCR 3/ABL II rearrangement. In 8 cases of Ph' negative patients, 4 had BCR 3/ABL II rearrangement, 3 had both rearrangements while 1 had no BCR/ABL rearrangement. Interestingly, in 4 patients who had no cytogenetic result, we could observe BCR 3/ABL II rearrangement in 3 cases and both rearrangements in 1 case. The results suggest that this procedure is sensitive and independent of the presence or absence of an identifiable Ph' chromosome.
Asunto(s)
Médula Ósea/patología , Exones , Femenino , Proteínas de Fusión bcr-abl/biosíntesis , Reordenamiento Génico , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/sangre , Masculino , Cromosoma Filadelfia , Reacción en Cadena de la Polimerasa , Transcripción GenéticaRESUMEN
The direct chromosome preparation from the CV is a reliable method for diagnosis of the gross chromosomal anomalies and could be completed in the shortest possible time. However, direct villi preparation does not always provide sufficient or good quality metaphases. The culture medium plays an important role in achieving a good success rate. We report the efficacy of our modified medium and compared it with Chang's. The modified medium showed slightly higher successful karyotyping (68.4%) than the Chang medium (65.4%). This success rate showed no statistically significant difference. The success rate enhanced up to 92.3 per cent using our modified medium when the CV was of good quality. The higher amount of CV did not lead to a higher success rate. Any amount more than 5 mg of the CV was sufficient for direct chromosome preparation.