1,721,062 research outputs found
Contribution of the TA repeats on melting temperature (T(m)) in a double strand DNA: Comparison of two methods and implications in molecular diagnostics
No full textThe present paper is aimed to discuss and revise a not recent molecular laboratory protocol describing the behavior of UGT1A1 gene melting curves. Since some problems in the standardization of this already published molecular protocol were found, we tried to improve this method in order to correctly set up the amplification and melting profile steps. Under our standardized conditions, we were able to perfectly distinguish the three different UGT1A1 genotypes since each one showed a peculiar melting behavior, as compared with those previously published by another group. Finally, some suggestions and indications are provided for laboratory specialists interested in Gilbert syndrome diagnostics. Based on these results, we underline the need of more standardized protocols above all when they are used for clinical diagnostics. © 2011
Potential usefulness of CTC detection in follow up of prostate cancer patients. A preliminary report obtained by using Adnagene platform
No full textL'AUMENTO DEI LIVELLI PLASMATICI DI OMOCISTEINA PUÒ CONSIDERARSI COME FATTORE DI RISCHIO DI DANNO VASCOLARE NEL DIABETE DI TIPO 1?
No full textGilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database
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Role of ergothioneine on S-nitrosoglutathione catabolism
No full textErgothioneine (ESH) is a low-molecular-mass thiol present in millimolar concentrations in a limited number of tissues, including erythrocytes, kidney, seminal fluid and liver; however, its biological function is still unclear. In the present study we investigated the role of ESH in the catabolism of S-nitroso-glutathione (GSNO). The results show that: (1) GSNO decomposition is strongly influenced by ESH (k′′ = 0.178±0.032 M-1·s-1); (2) ammonia is the main nitrogen-containing compound generated by the reaction; and (3) nitrite is practically absent under both aerobic and anaerobic conditions. These findings are markedly different from those reported for the GSH-induced decomposition of GSNO, in which the nitrogen-containing end products are nitrite, ammonia and nitrous oxide (N2O) under aerobic conditions but nitrite, ammonia, nitric oxide (NO) and small quantities of hydroxylamine under anaerobic conditions. Considering the high concentration of ESH in specific cells, the reaction with GSNO should be considered as an important molecular event occurring in the cell
Hyper-homocysteinemia is Not a Main Feature of Juvenile Uncomplicated Type 1 Diabetes
No full textTotal plasma homocysteine (tHcy) was measured by high pressure liquid chromatography (HPLC) method in 28 patients (12 females and 16 males) at the onset of type 1 diabetes mellitus (T1DM), 4 females during diabetes ketoacidosis (DKA) and 154 (68 females and 86 males) during follow-up. Serum folate, pyridoxal 5’ phosphate (PLP) and Vitamin B12 (Vit B12) were also measured. Plasma tHcy levels were not found significantly different in T1DM patients known to have diabetes (males 9.2 ± 7.7 and females 7.0 ± 2.8 μmol/l) and in those who were newly diagnosed (males 9.7 ± 4.8 and females 7.16 ± 2.8 μmol/l) than in healthy controls (males 8.7 ± 3.5 and females 7.8 ± 2.55 μmol/l). Only a significant difference for sex was observed in known diabetes (p = 0.0281). Serum folate, PLP and Vit B12 were normal (12.6 ± 3.6 ng/ml, 20.11 ± 0.8 ng/ml and 416.7 ± 41.9 pg/ml) in all T1DM patients. Age significantly correlated with plasma tHcy. Only in 4 patients, studied during DKA, plasma tHcy was significantly lower (2.76 ± 1.33 μmol/l, p < 0.001) than the healthy controls
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis
No full textRapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: From DNA extraction to genotyping
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