We developed an original method that allows the simultaneous molecular amplification and analysis of human chromosome X‐ and Y‐specific sequences from cortical compact bone using the polymerase chain reaction (PCR). The strategy is based on sequential amplification using external and internal primers. The targeted loci are SRY for chromosome Y and DXZ4 for chromosome X. Internal and external primer pairs for both loci were selected in order to allow the simultaneous amplification of short sequences of distinct molecular weight in the same reaction. Ethidium bromide stained PCR products were analysed on 2 per cent agarose gels. The presence of two distinct amplification bands permitted the fast and unequivocal identification of male bones, whereas female bones were identified by the presence of a single band. The technique was validated by comparative analysis of modern human DNAs of known sex and of DNAs from medieval bone samples whose sex could be determined using conventional anthropological methods. We then analysed bone samples from 40 burials found under the Church of St Maria Aprutiensis in Teramo, Abruzzo. These burials were dated to AD 800–1200 by 14C accelerated mass spectrometry radiometric analysis. Molecular analysis allowed the unambiguous identification of sex in all the samples studied. These results indicate that molecular techniques represent useful and often critical additions to anthropological studies of ancient human remains. © 1997 by John Wiley & Sons, Ltd.
IHD is determined by an inadequate coronary blood supply to the myocardium, and endothelial dysfunction may represent one of the main pathophysiological mechanisms involved. Genetic predisposition to endothelial dysfunction has been associated with IHD and its clinical manifestation. However, studies are often confounding and inconclusive for several reasons, such as interethnic differences. Validation of results in larger cohorts and new populations is needed. The aim of this study is to evaluate the associations between the allelic variants of the eNOS rs1799983 single-nucleotide polymorphism, IHD susceptibility and its clinical presentation. Methods: A total of 362 consecutive patients with suspected myocardial ischemia were enrolled. Patients were divided into three groups: G1, coronary artery disease (CAD); G2, coronary microvascular dysfunction (CMD); and G3, a control group with anatomically and functionally normal coronary arteries. Analysis of three allelic variants, GT, GG and TT, of rs1799983 for the NOS3 gene, encoding for eNOS, was performed. Results: rs1799983_GT was significantly more expressed by the ischemic groups (G1 and G2) compared to G3. The TT variant was significantly more expressed by the G1 group, compared to the G2 group. Among ischemic patients, GT was significantly more expressed in patients with acute coronary syndrome (ACS) presentation, compared to other clinical presentations. In the multivariate analysis, the allelic variant GT was found to potentially represent an independent predictor of IHD and ACS presentation. Conclusion: The presence of the SNP rs1799983_GT, encoding for eNOS, is an independent risk factor for IHD and, remarkably, for ACS presentation, independently of cardiovascular risk factors. These results may be useful for the prediction of IHD development, particularly with an acute clinical manifestation. They may allow the early identification of patients at high risk of developing IHD with an ACS, promoting a genetic-based prevention strategy against IHD.
In Italy, blood exudation from objects of worship recurs frequently in ancient chronicles and literature, in popular beliefs, and even in modern mass-media reports. This phenomenon, that was associated with epochal or catastrophic events, has roots that reach classical antiquity. In the last few years, several events connected with the detection of bloody “tears” on statues of the Virgin Mary required forensic medicine investigations. In the present report we describe genetic investigations conducted on dried blood of unknown derivation found on a statuette representing the Virgin Mary. To test the human or animal origin of the blood, we amplified Alu-specific sequences from DNAs obtained from the unknown sample and from humans, large apes, various Old and New World monkeys, a prosimian, mouse, common domestic artiodactyls and chicken. This investigation restricted the range of possible origin of the statue blood to humans, apes and Old World monkeys. To test the male or female origin of the blood, we used a multiplex nested polymerase chain reaction method, that allows the simultaneous amplification of the X-specific locus DXZ4 and of the Y-specific locus SRY. Considering the unlikelihood of an origin from simian Old World primates, the exclusive amplification of the X-specific product from the unknown sample and from human female blood controls, compared to the amplification of distinct X- and Y-specific bands from human male blood controls, strongly supports a human female origin of the statue blood.
Background Ischemic heart disease (IHD) is classically associated with coronary artery disease (CAD) and conventional cardiovascular risk factors. However, IHD may exhibit in the absence of CAD, because of different pathophysiological mechanisms, such as the presence of specific genetic variants of ion channels, which act mainly in the microcirculation. Recently, we reported the correlation between some single nucleotide polymorphisms (SNPs) of ion channels genes and the presence of IHD, independently from the presence of conventional cardiovascular risk factors. The goal of this study is to confirm the results of the previous study on a bigger population and discover new SNPs of ion channels genes which may be associated with IHD. Methods A prospective, observational, single-center study was conducted on patients candidates for coronary angiography. Patients were divided in three groups: G1, coronary artery disease; G2, microvascular disfunction; G3, normal. Genetic polymorphisms relative to KCNJ11 encoding for the Kir6.1 and Kir6.2 subunits of K-ATP channels and KCNE1 encoding for the MinK subunit of IKs channels were analyzed. Results 603 consecutive patients (G1: 409; G2:76; G3:118) were enrolled. Genetic analysis for the three groups showed a statistically significant difference for the SNP S38G of KCNE1 (p=0.001) and for the variants rs5215, rs5218, rs5219 of KCNJ11 (p<0.0001), as well as comparing G1-G3 (S38G p=0.006; rs5215, rs5218 and rs5219 p<0.0001). Regarding G1-G2 we confirmed differences only for the variants rs5215 (p<0.0001), rs5218 (p=0.005) and rs5219 (p=0.024), while regarding G2-G3 we found differences for the variants S38G, rs5215 e rs5219 (p<0.0001). A multivariate analysis was performed and highlighted that the SNP rs5215_GG of KCNJ11 may represent an IHD independent protective factor (p<0.0001; OR: 0.036; 95.0% CI: 0.018–0.069). Conclusion These results confirm the importance of genetic susceptibility and the role of SNPs of ion channels genes in the determinism of IHD, independently from the conventional cardiovascular risk factors. Moreover, these results may represent a future perspective for a genic therapy for IHD.
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