ABSTRACT
Short tandem repeats (STRs) are commonly used as genetic markers. The detection and analysis of STRs can be used to gather information on polymorphisms of interest to forensic geneticists. Denaturing polyacrylamide gel electrophoresis (PAGE) is an affordable method for the detection of minor sequence changes in DNA, while capillary electrophoresis (CE) is the gold standard for genotyping analysis. This appears to be the first study to directly compare data obtained using the two electrophoretic techniques. We analyzed genomic DNA from 209 individuals to compare genotyping results from seven Combined DNA Index System (CODIS) STR markers obtained by both techniques. The automated electrophoresis was carried out using a MegaBACETM 1000 DNA analysis system. Full concordance was found in 1297 of 1308 STR allele calls. Kappa and McNemar-Bowker tests indicated that there were no statistically significant differences between the results from the two methods. There was no statistically significant difference in precision between denaturing PAGE followed by silver nitrate staining, despite a longer protocol, compared with CE when applied to population studies. STR allele frequency data from non-automated genotyping techniques seem to be just as reliable as from automated genotyping methods.
Subject(s)
Electrophoresis, Capillary/methods , Genotyping Techniques/methods , Microsatellite Repeats , Alleles , Automation , Genetic Markers , Genome , Humans , Sensitivity and SpecificityABSTRACT
Visceral leishmaniasis (VL) is a well recognized opportunistic infection in immunosuppressed patients, which may cause febrile illness. We describe 4 renal transplant patients with VL in an endemic area in Brazil and their response to therapy. In 3 cases the diagnosis was confirmed by bone marrow aspirate that revealed the presence of Leishmania. In 1 case the bone marrow aspirate was inconclusive and the diagnosis was made through spleen biopsy that showed the presence of the parasite. VL needs to be considered as a cause of febrile illness in transplanted patients living in endemic areas.
Subject(s)
Kidney Transplantation/adverse effects , Leishmaniasis, Visceral/diagnosis , Transplantation Conditioning/adverse effects , Adult , Amphotericin B/therapeutic use , Animals , Antiprotozoal Agents/therapeutic use , Biopsy, Needle , Bone Marrow/parasitology , Bone Marrow/pathology , Brazil , Diagnosis, Differential , Female , Humans , Kidney Failure, Chronic/surgery , Leishmaniasis, Visceral/drug therapy , Leishmaniasis, Visceral/etiology , Leishmaniasis, Visceral/pathology , Male , Middle Aged , Spleen/parasitology , Spleen/pathologyABSTRACT
Measurement of vibratory perception threshold was carried out on the internal malleoli of 73 healthy subjects and 26 diabetic patients with symptoms of polyneuropathy in their legs. The tests were done first with a tuning fork, using a measuring scale to reflect the amplitude of vibration, and then with an electromagnetic vibrameter (Somedic AB, Stockholm). The results obtained using the vibrameter were much more sensitive than those recorded with the tuning fork (12 and 3 pathological results respectively, in 26 patients). Vibratory perception sensitively reflects disturbances of the function of fast adapting mechanoreceptors and of thick myelinated sensory nerve fibres. The results proved to be readily reproducible. Some variability was noted in the normal values obtained: A further development of the method to exclude the influence of reaction times of patient and investigator on the results might reduce this variability.
