1,721,116 research outputs found

    Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare Tf(C)6 among Caucasians

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    The results of a large screening for the transferrin polymorphism in five different areas of Italy (3099 cases) are given. Frequencies of common types were similar to those of already known Caucasian populations. Among rare types Tf(B) were more frequently observed than Tf(D). Evidence is given for the existence of the Tf(C)6 allele in Caucasians. A family group analysis of some rare types was done

    Causalità ed inferenza nel diritto e nella prassi giuridica

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    Divulgação dos SUMÁRIOS das obras recentemente incorporadas ao acervo da Biblioteca Ministro Oscar Saraiva do STJ. Em respeito à lei de Direitos Autorais, não disponibilizamos a obra na íntegra. STJ00092345 340.6 P278c (2011

    Joint Bayesian analysis of forensic mixtures

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    Evaluation of series of PCR experiments referring to the same evidence is not infrequent in a forensic casework. This situation is met when 'series of results in mixture' (EPGs produced by reiterating PCR experiments over the same DNA mixture extract) have to be interpreted or when 'potentially related traces' (mixtures that can have contributors in common) require a combined interpretation. In these cases, there can be uncertainty on the genotype assignment, since: (a) more than one genotype combination fall under the same peak profile; (b) PCR preferential amplification alters pre-PCR allelic proportions; (c) other, more unpredictable technical problems (dropouts/dropins, etc.) take place. The uncertainty in the genotype assignment is in most cases addressed by empirical methods (selection of just one particular profile; extraction of consensual or composite profiles) that disregard part of the evidence. Genotype assignment should conversely take advantage from a joint Bayesian analysis (JBA) of all STRs peak areas generated at each experiment. This is the typical case of Bayesian analysis in which adoption of object-oriented Bayesian networks (OOBNs) could be highly helpful. Starting from experimentally designed mixtures, we created typical examples of 'series of results in mixture' of 'potentially related traces'. JBA was some administered to the whole peak area evidence, by specifically tailored OOBNs models, which enabled genotype assignment reflecting all the available evidence. Examples of a residual ambiguity in the genotype assignment came to light at assumed genotypes with partially overlapping alleles (for example: AB+AC→ABC). In the 'series of results in mixture', this uncertainty was in part refractory to the joint evaluation. Ambiguity was conversely dissipated at the 'potentially related' trace example, where the ABC allelic scheme at the first trace was interpreted together with other unambiguous combinations (ABCD; AB) at the related trace. We emphasize the need to carry out extensive, blind sensitivity tests specifically addressing the residual ambiguity that arises from overlapping results mixed at various quantitative ratios

    'Stochastic' effects at balanced mixtures: a calibration study

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    DNA mixtures are challenging not only at low template DNA level but also at highly balanced quantitative ratio. In this latter case, interpretation may be complicated by the joint action of combinatorial uncertainty and stochastic effects of the PCR. We explore this particular and so far little noticed aspect of mixture interpretation by first providing a complete quantitative combinatorial analysis of the two-person mixture model (2PM) at highly balanced ratio of contributors, and then by carrying out a calibration study of the 2PM model on good quality experimental mixtures. The calibration tests provided the evidence for the existence of irregular distribution of peak heights, that can misguide the correct genotype assignment at high template ratios too. Repeating the experiment, performing Bayesian analysis to the whole evidence and developing a careful joint prediction of all plausible genotype datasets is highly mandatory in these cases, prior to set evidentiary LRs and use them in court

    Unusual transferrin TF*D mutants in some Congo populations

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    Transferrin allele (TF) distribution was investigated in three Bantu and one Babenga Pygmy groups of Congo, by isoelectric focusing on polyacrylamide (PIEF). In comparison with other Black populations, the four groups had a twofold higher TF*D frequency. Three different TF*D mutants were observed, the commonest type of which was identical by PIEF to a *D1 Caucasian allele. The classification of the other two is discussed. The homozygous TF D1 pattern was present in Babenga. The polymorphism of transferrin confirmed the uniqueness of anthropological traits in such Congo populations

    Transferrin and infertility. Genetic-clinical investigations [TRANSFERRINA ED INFERTILITA: INDAGINE GENETICO-CLINICA. NOTA PRELIMINARE]

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    The role of transferrin in blastocyte implantation and the maintenance of the foetus in the uterus has been investigated by may researchers with the aim of identifying a correlation between genetic polymorphorism genotypes and fertility changes. It was decided to investigate the significant effect on the local population of the Tf(c2) variant. Beckman has suggested that this variant may be connected with a history of abortion. The transferrin genotypes of two groups of women were therefore identified: Group I with a history of early sporadic abortion, Group II with a history of 2 or more early spontaneous abortions. The results of the investigation carried out in Arezszo when then compared with the genotypic distribution of transferrin throughout the same province. The outcome shows the existence of an insignificant correlation with each genotype. These findings do not agree with Beckman's conclusions. The range of subjects studied will be extended and the research will also be carried out in other provinces with the aim of identifying different significant factors in view of the importance of this subject in the field of the aetiopathogenesis of infertility.

    Rapid resolution of transferrin(c) subtypes through isoelectric focusing with 2-mercaptoethanol

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    The technique of choice currently used for the detection of serum transferrin molecular polymorphism is isoelectric focusing on polyacrylamide slab gels. However, this procedure is unsatisfactory for routine purposes, since a long pretreatment of the serum with iron-donor compounds or neuraminidase is necessary in order to obtain a complete resolution of the transferrin molecule. A very fast and highly economical standardized procedure for transferrin typing which enables a fair molecular resolution within only 3 1/2 h is reported. Protracted pretreatment of serum with neuraminidase or with iron-donor compounds can be totally avoided. An ultrathin layer of polyacrylamide gel is employed for the run, using pH ranges of 4-6.5 or 5-7. A short pretreatment of serum with a 13% solution of 2-mercaptoethanol is performed before the samples are placed on the gel. This technique has been used to perform transferrin typing in 396 cord serum samples from newborn infants of Arezzo (Tuscany), without occurrence of artifacts or the appearance of extra bands in transferrin patterns
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