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Biomedical subjects

S Pelotti

Publications and source records attributed to S Pelotti.

11 recordsLinked to original sources

Different informativeness of the three hypervariable mitochondrial DNA regions in the population of Bologna (Italy).

Mitochondrial DNA (mtDNA) sequence variations at hypervariable regions HVI, HVII and HVIII were analysed in 100 unrelated Italians from Bologna. The values of the statistical parameters are in agreement with the range of European populations. We suggest that the less informative HVIII region may be useful to distinguish HVI-HVII identical sequences in forensic analysis especially when nuclear DNA cannot be investigated.

Complementarity Determining Regions↗

Sex chromosome analysis in Turner Syndrome by a pentaplex PCR assay.

In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases.

Adult↗

A method for sex assignment in mixed samples.

A method for male sex assignment in mixed samples by amplifying a specific amelogenin Y sequence is described. The specificity and the high sensitivity make it suitable for basic research, forensic evaluations and clinical applications.

Amelogenin↗

Automated fluorescence analysis of CAG repeats at the human androgen receptor gene (HUMARA): evaluation of polymorphism in an Italian sample and report of a new allele.

The HUMARA CAG repeats polymorphism was studied in an Italian population sample. Polymerase chain reaction amplification and automated fluorescent analysis were used. A total of 19 and 15 repeats was observed in female and male subjects, respectively, and one new allele was found. The authors conclude that this X-linked short tandem repeat, typed without ambiguity and with a heterozygosity of 0.902, is useful in parentage testing of female subjects.

DNA↗

Myotonic dystrophy CTG repeats in an Italian population sample: evaluation of the polymorphism for forensic applications.

The myotonic dystrophy (DM) CTG repeat polymorphism has been studied in an Italian population sample. Polymerase chain reaction (PCR) amplification, manual polyacrylamide gel electrophoresis (PAGE), and silver staining were employed. Alleles were typed by comparison with a sequenced allelic ladder. A total of 25 different alleles, spanning the range from 5 to 31 CTG triplets, was observed. The heterozygosity was 79%, and no significant deviation from Hardy-Weinberg equilibrium was found. Eighty-one meioses from parentage testing were also analyzed, and a Mendelian pattern of inheritance was observed in all cases. In addition, we could successfully type the DM locus in 20 laboratory-prepared bloodstains, with 1 ng of DNA allowing clear definition of alleles. We conclude that the CTG repeats at the DM locus may be useful for forensic applications.

Alleles↗

The DRPLA CAG repeats in an Italian population sample: evaluation of the polymorphism for forensic applications.

The DRPLA CAG repeats polymorphism has been studied in an Italian population sample. PCR amplification, manual PAGE and silver staining were employed. A total of 16 different alleles, spanning the range from 5 to 21 CAG triplettes, was observed. The heterozygosity was 0.81 and no significant deviation from Hardy-Weinberg equilibrium was found 81 meioses from parentage testing were also analyzed and a Mendelian pattern of inheritance was observed in all cases. In addition, we could successfully type DRPLA locus in some forensic specimens, 1 ng of DNA allowing clear definition of alleles. The authors conclude that the DRPLA CAG repeats analysis may be useful for forensic applications.

Alleles↗

A common disinfectant used in condom processing inhibits endonuclease digestion of sperm DNA.

DNA recovered from a condom found at a crime scene appeared undigestible with restriction enzymes, preventing characterization by Southern blot and polymorphic probe hybridization. Several chemical substances used in the processing and treatment of condoms were tested for inhibitory action of restriction enzymes. In particular dibenzalkonium chloride appeared to promote enzyme inhibition at very low concentrations. The effectiveness of treatments to restore cleavage of sample DNA in the presence of such contaminants is discussed.

Benzalkonium Compounds↗

Identification of anti-HIV-1 antibodies in bloodstains of various ages.

The persistence of anti-HIV-1 antibodies in bloodstains has been studied by ELISA and Western Blot (WB) analysis. The immunoblot technique was found to be specific and more sensitive and the antibodies could be detected in 0.7 mg of bloodstains for up to 6 months. The authors emphasize the importance of such an investigation on non-genetic markers in individual diagnosis for forensic purposes.

Blood Stains↗

The HUMFIBRA (FGA) polymorphism in an italian population and a world-wide frequency distribution analysis.

OBJECTIVE: The study investigated the highly polymorphic HumFGA short tandem repeat in a sample of 219 unrelated and native individuals from Bologna, and analysed a complete database of FGA allele frequency distributions in 57 world-wide populations collected from the literature. METHOD: The HumFGA polymorphism was screened by automated fluorescence analysis of PCR-amplified labelled sample fragments performed with an ABI PRISM 310 Genetic Analyser. Genetic distances (Dsw, delta mu2 and Fst) between populations were computed with the MSAT.2 program. Non-metric multidimensional scaling (nmMDS) and neighbour-joining trees (NJTs) were used to investigate patterns of population affinities. Correspondence analysis of the genetic relationships among populations was also performed. MAIN RESULTS AND CONCLUSIONS: The FGA microsatellite locus is a population marker with a high degree of polymorphism throughout the world. Fourteen HumFGA alleles, ranging in size from 18 to 29 repeats, were identified and sequenced in the Bologna population. The sample was in Hardy-Weinberg equilibrium and had a heterozygosity value of 0.86. Results obtained from the multivariate analyses were consistent in showing great similarity among Europeans. The few African populations investigated were characterized by an even higher level of polymorphism, probably related to the ancient peopling of that continent.

Databases, Genetic↗

[Sex determination in hair roots without sheath: proposal of a method for preparation of specimens].

Japanese authors have described a procedure for the sex determination of human hair roots without epithelial sheath, paraffin embedded and fluorescent stained for cortical cell nuclei Y or X sex chromatins. This method however is not sufficiently practical for forensic science purposes: it is difficult and not guaranteed to obtain suitable longitudinal hair sections with possible loss of evidence particularly serious when the questioned hair is only one. The authors, researching Y-bodies with Quinacrine, present an alternative technique of preparation of specimens without embedding which is simple and quick, reproducible and satisfying in results and that avoids loss of material.

Fluorescent Dyes↗