1,721,112 research outputs found
Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms?
No full textIn this commentary, we focused our attention on capillary electrophoresis. It achieves the efficient separation of molecular species by the application of high voltages to samples in solution. Actually, capillary electrophoresis can be performed on microchip devices, based on an automated and miniaturized electrophoresis system, based on lab-on-a-chip technology. By this technology it is possible to separate nucleic acid fragments (DNA or RNA) with respect to sizing accuracy and sizing resolution. Currently, two automated capillary electrophoresis on microchips devices are available: the Agilent 2100 Bioanalyzer and the Experion Automated Electrophoresis System. In this study, we evaluated if the CE is able to distinguish the three uridine diphosphate glucuronosyltransferase 1A1 TATA-box genotypes
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
No full textBackgrounds: Recently, we have considered two new findings in genetics
of 21-hydroxylase deficiency with great interested: the existence of
rare RCCX trimodular haplotypes, where the CYP21A2 like-gene downstream
of the TNXA gene carries from one to six pseudogene mutations, and
population specific allelic frequencies of wild-type CYP21A2 loci in the
CYP21A1P pseudogene. Both these events represent a further complication
in CYP21A2 genetics. Therefore, the choice of the molecular protocol
becomes a crucial point when genetic analysis is required. In this
regard, we must consider that the literature is still lacking consistent
data on the Italian population. For this reason, we report genetic
results obtained on 375 healthy individuals of Italian origin.
Methods: Different genetic protocols were compared and novel molecular
strategies were performed.
Results: In our group, only two known haplotypes were identified. In
addition, specific allelic frequencies of CYP21A2 wild-type loci in the
pseudogene have been established.
Conclusions: Based on our results, we can affirm that the employment of
different molecular methods is necessary to ensure a correct CYP21A2
genotyping. In order to avoid mistakes both in patient diagnosis and/or
in risk evaluation of the relatives, each case should be investigated in
function of a careful clinical evaluation and the molecular test should
be performed in specialized centres. (c) 2013 The Authors. Published by
Elsevier B.V. All rights reserved
Comparing different methods for homocysteine determination
No full textSlightly elevated values of homocysteine are commonly associated with thromboembolic diseases, while high values can be found in patients with congenital metabolic defects or nutritional problems. The clinical use of homocysteine as an independent marker of cardiovascular disease was limited in the past by technical problems with its measurement, the instrumentation (HPLC, radioenzymatic assays, gas chromatography-mass spectrometry, etc.) and the necessary skills required. Commercially available immunoassays now permit a simpler and more rapid measurement of homocysteine, that is more suitable for routine clinical laboratories; in this paper we analyze the results obtained by using three fully automated methods for homocysteine determination (Abbott IMx immunoassay, Abbott AxSYM immunoassay and Immulite 2000 homocysteine immunoassay) and their correlation with the widely used HPLC method. The results clearly indicate that all three automated immunochemical methods correlate well with the HPLC method (slope 0.97-1.03; intercept 0.95-1.91 with a recovery above 95% for all three methods)
Is capillary electrophoresis on microchip devices able to genotype uridine diphosphate glucuronosyltransferase 1A1 TATA-box polymorphisms?
No full textEffetto di monomeri metacrilici delle resine composite per uso odontoiatrico sul metabolismo redox del glutatione
No full textRapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: From DNA extraction to genotyping
No full textNo Abstrac
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis
No full textBACKGROUND: The basis of Gilbert's syndrome is a 70% reduction in bilirubin glucuronidation which, in the Caucasian population, is the result of a homozygous TA insertion into the promoter region of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene (UGT1A128 allele). In addition, homozygous subjects for UGT1A128 genotype may suffer from severe irinotecan toxicity or jaundice during treatment with the protease inhibitor atazanavir. For these reasons it is very important to perform a correct molecular diagnosis. In this study, we describe for the first time a new high resolution melting (HRM) analysis for a rapid UGT1A1 (TA)(n) genotyping.
METHODS:
We screened the TA number repetitions of the TATA-box promoter region of the UGT1A1 gene in 30 patients attending the Gemelli Hospital. In order to evaluate the reliability of this technique, we compared the results obtained by HRM and sequencing.
RESULTS:
Since the TA insertion modifies the derivative melting curve shape and the melting temperature (T(m)), all possible genotypes for the 6 and 7 repeat alleles were successfully identified.
CONCLUSIONS:
HRM analysis for the UGT1A1 (TA)(n) genotyping is a simple, rapid, sensitive and low cost method, very useful in diagnostics
A combination of infrared spectroscopy and morphological analysis allows successfully identifying rare crystals and atypical urinary stones
No full textBackground. The combination of infrared spectroscopy and morphological analysis significantly improves the urinary stone analysis. In addition to common urinary stones, it is not unusual to encounter spurious or factitious stones that, if not appropriately identified, can lead to errors in the diagnosis. In this study, we show the importance of Infrared Spectroscopy and the morphological analysis, for determining the presence of drugs crystals or atypical components in the calculi.Methods. 1041 urinary stones were analyzed by morphocostitutional analysis, in addition the rare stones were analyzed by chemical spot test analysis.Results. Among 1041 calculi analyzed, 1018 had a known composition, 23 samples were stones with rare composition or fake urinary stones.Conclusions. Infrared spectroscopy (FT-IR), allows to identify, theoretically, any substance, including drug-containing calculi or calculi with unusual composition and identify false stones. This is mandatory to treat patients affected by urolithiasis with a personalized clinical approach
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