The use of surname and Y-chromocome analyses for reconstructing past population structures: the test case of Sardinia

The male specific region of the Y chromosome is uniparentally transmitted. It escapes recombination and its evolution is only due to the sequential accumulation of new mutations along radiating paternal lineages. Due to this process, which occurred mainly during and after the process of human colonization and diffusion into the different geographic region, the present Y-chromosome sequence variation represents a unique record of the biological history of our species and modern populations. Its analysis allows the identification of ancestral and founder haplotypes, the detection of ancient migration routes and the estimation of migration times. However, this analysis is sometimes undermined by recent migrations which became more and more important also for “isolated” populations, weakening the boundaries of genetic isolates by making uniform the distribution of genetic markers. A solution for this problem is represented by the reconstruction of the ancient isolates starting from the present data by using the information obtained from the surname analysis. With the aim of investigating the peopling of Sardinia and the aspects of its human Y-chromosome contemporary variation that can be ascribed to primary colonization, Neolithic dispersals or more recent events of gene flow, we have analyzed in detail the Y chromosome haplogroup distributions in a wide sample (more than 500 Y chromosomes) whose surname origin could be attributed specifically to one of the different Sardinian linguistic zones (Contini et al., 1989, Piazza et al. 1987). In addition, in order to evaluate the divergence of the different haplogroups observed in the island, and therefore their coalescent time, a set of 12 STR loci was examined. On the whole, by the comparison of 11 regions representative of ancient Sardinian isolates, a significant differentiation has been confirmed for the central eastern area of the island, in agreement with historical and linguistic data that indicate this region as the “archaic”zone. This is due to a lower incidence of haplogroups arrived in Europe during the Neolithic and post Neolithic times (Cruciani et al. 2004, Semino et et al. 2004), but mainly to a significative higher frequency of the Paleolithic haplogroup I-M26

Y-chromosome and Surname Analyses for Reconstructing Past Population Structures: The Sardinian Population as a Test Case

Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. However, due to the homogenizing effect of internal movements, which have intensified over the past fifty years, only partial information has been obtained about the main demographic events. To overcome this limitation, we analyzed the male-specific region of the Y chromosome in three population samples obtained by reallocating a large number of Sardinian subjects to the place of origin of their monophyletic surnames, which are paternally transmitted through generations in most of the populations, much like the Y chromosome. Three Y-chromosome founding lineages, G2-L91, I2-M26 and R1b-V88, were identified as strongly contributing to the definition of the outlying position of Sardinians in the European genetic context and marking a significant differentiation within the island. The present distribution of these lineages does not always mirror that detected in ancient DNAs. Our results show that the analysis of the Y-chromosome gene pool coupled with a sampling method based on the origin of the family name, is an efficient approach to unravelling past heterogeneity, often hidden by recent movements, in the gene pool of modern populations. Furthermore, the reconstruction and comparison of past genetic isolates represent a starting point to better assess the genetic information deriving from the increasing number of available ancient DNA samples

Välttelevän kiintymyssuhteen merkitys lapsen hyvinvoinnille

Tarkoituksena tässä opinnäytetyössä on koota tutkimustietoa välttelevästä kiintymyssuhteesta ja sen merkityksestä lapsen hyvinvoinnille. Tavoitteena oli kehittää ammatillista osaamista teoriapohjan osalta ja käsitellä tutkittavaa aihetta psykiatrisen hoitotyön näkökulmasta, mikä on suuntautumiseni. Tutkimuskysymys on jaettu kahteen osaan: vanhempien ja lapsen välinen kiintymyssuhde ja lapsen kehitys ja hyvinvointi. Näiden osien ulottuvilta on haettu tutkimusartikkeleita, tutkimusraportteja ja asiantuntijakirjoituksia, joista on koottu tiivistelmiä kirjallisuuskatsauksen tapaan. Pohdinnassa on eritelty aineistoa tarkemmin tutkimuskysymyksen osalta. Kiintymyssuhde kehittyy lapsella varhaisen vuorovaikutuksen kautta 0–2-vuotiaana. Jos vanhemmat laiminlyövät kommunikoinnin lapsen kanssa, emotionaalinen kehitys jää vajaaksi eikä lapsi opi ilmaisemaan omia tarpeitaan ja tunteitaan. Välttelevän kiintymyssuhteen seuraukset voivat olla laajat epäsosiaalisuudesta kognitiivisiin häiriöihin. Epäsosiaalisuuteen kytkeytyviin häiriöihin kuuluu puhumattomuus, eristäytyminen ja laajemmin kroonistunut masennus, mihin taas liittyy vahva itsetuhoisuuden riski