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- Bailey-Wilson, Joan E, et al.
(författare)
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Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
- 2012
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Ingår i: BMC Medical Genetics. - London : BioMed Central. - 1471-2350. ; 13, s. 46-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence suggests that genetic linkage to prostate cancer has been found on several chromosomes including the X; however, identification of causative genes has been elusive.Methods: Parametric and non-parametric linkage analyses were performed using 26 microsatellite markers in each of 11 groups of multiple-case prostate cancer families from the International Consortium for Prostate Cancer Genetics (ICPCG). Meta-analyses of the resultant family-specific linkage statistics across the entire 1,323 families and in several predefined subsets were then performed.Results: Meta-analyses of linkage statistics resulted in a maximum parametric heterogeneity lod score (HLOD) of 1.28, and an allele-sharing lod score (LOD) of 2.0 in favor of linkage to Xq27-q28 at 138 cM. In subset analyses, families with average age at onset less than 65 years exhibited a maximum HLOD of 1.8 (at 138 cM) versus a maximum regional HLOD of only 0.32 in families with average age at onset of 65 years or older. Surprisingly, the subset of families with only 2-3 affected men and some evidence of male-to-male transmission of prostate cancer gave the strongest evidence of linkage to the region (HLOD = 3.24, 134 cM). For this subset, the HLOD was slightly increased (HLOD = 3.47 at 134 cM) when families used in the original published report of linkage to Xq27-28 were excluded.Conclusions: Although there was not strong support for linkage to the Xq27-28 region in the complete set of families, the subset of families with earlier age at onset exhibited more evidence of linkage than families with later onset of disease. A subset of families with 2-3 affected individuals and with some evidence of male to male disease transmission showed stronger linkage signals. Our results suggest that the genetic basis for prostate cancer in our families is much more complex than a single susceptibility locus on the X chromosome, and that future explorations of the Xq27-28 region should focus on the subset of families identified here with the strongest evidence of linkage to this region.
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- Christensen, G Bryce, et al.
(författare)
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Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer Genetics using novel sumLINK and sumLOD analyses.
- 2010
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Ingår i: The Prostate. - : Wiley. - 0270-4137 .- 1097-0045. ; 70, s. 735-744
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Prostate cancer (PC) is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD statistics are powerful tools for linkage analysis in the presence of heterogeneity. METHODS: We performed a secondary analysis of 1,233 PC pedigrees from the International Consortium for Prostate Cancer Genetics (ICPCG) using two novel statistics, the sumLINK and sumLOD. For both statistics, dominant and recessive genetic models were considered. False discovery rate (FDR) analysis was conducted to assess the effects of multiple testing. RESULTS: Our analysis identified significant linkage evidence at chromosome 22q12, confirming previous findings by the initial conventional analyses of the same ICPCG data. Twelve other regions were identified with genome-wide suggestive evidence for linkage. Seven regions (1q23, 5q11, 5q35, 6p21, 8q12, 11q13, 20p11-q11) are near loci previously identified in the initial ICPCG pooled data analysis or the subset of aggressive PC pedigrees. Three other regions (1p12, 8p23, 19q13) confirm loci reported by others, and two (2p24, 6q27) are novel susceptibility loci. FDR testing indicates that over 70% of these results are likely true positive findings. Statistical recombinant mapping narrowed regions to an average of 9 cM. CONCLUSIONS: Our results represent genomic regions with the greatest consistency of positive linkage evidence across a very large collection of high-risk PC pedigrees using new statistical tests that deal powerfully with heterogeneity. These regions are excellent candidates for further study to identify PC predisposition genes. Prostate (c) 2010 Wiley-Liss, Inc.
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- Dahnberg, Magnus, 1961-
(författare)
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Tolkmedierade samtal som rollspel
- 2015
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis draws onthree sets of recordings of Swedish-Russian interpreter-mediated conversations,carried out as role plays. First,scripted role plays, performed as part of the Swedish state interpretercertification test, involving candidate interpreters and officials from thegovernmental body providing these tests. Secondly, both scripted andnon-scripted role plays, performed during interpreter training courses at theSwedish Armed Forces’ Language School. And thirdly, non-scripted role playsorganised in order to explore differences in style between more and lessexperienced official negotiators, working at a high international diplomaticlevel, for Sweden and Russia respectively, assisted by interpreters. The thesisadopts a text-oriented as well as an interactionist approach oninterpreter-mediated interaction and compares the management of turn-taking andrepair sequences in the three types of setting, focusing particularly on howthe presence or absence of a script affects turn-taking and the unfolding ofrepair sequences.
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- Dubrovina, Larisa, 1959-
(författare)
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Вариативное глагольное управление в русском языке первой трети XIX века : Variations in Russian Verbal Government 1800–1840
- 2002
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis focuses on Russian case syntax, more particularly on variable verbal government (rection) in the period 1800-1840. Variable rectional patterns in two major groups are examined: non-prepositional and prepositional rection. The period under examination coincides with the establishment of the literary norm.As the aim is to examine the usage of the spoken language among the educated classes in Nineteenth-Century Russia, an extensive body of material consisting of letters, diaries, memoirs and plays has been used.An important place is assigned to the historical background of the rection of the verbs examined. The reasons for variation between case forms are analysed and contrasted with the conclusions of nineteenth-century philologists. Various factors which influenced Russian verbal rection during this period, including the syntactic influence of French, are analysed. This has never been done before in a systematic way.Conclusions about the predominant as the more infrequent rectional patterns are supported by statistics on the incidence of all the various rectional patterns.The study shows that:- the majority of verbs during this period had modern rectional patterns;- the obvious cases of variation were exhibited in the period 1800-1820;- the exhibited variation was in most cases inherited from earlier epochs.
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- Gus'kov, Andrej G., et al.
(författare)
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Языки и переводчики : О жизни и деятельности крупнейшего полиглота Посольского приказа Ивана Тяжкогорского
- 2019
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Ingår i: Drevnjaja Rus' - Voprosy medievistiki. - Moskva. - 2071-9574 .- 2071-9590. ; 78:4, s. 62-81
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Tidskriftsartikel (refereegranskat)abstract
- This study is devoted to the life and career of Ivan Mikhailovich Tiazhkogorskii, a translator at the Ambassadorial Chancery in Moscow. We trace the main events of his life, the circumstances of his appointment to a position at the Ambassadorial Chancery (which was connected with A. L. Ordin-Nashchokin, head of the Chancery at the time), the important landmarks of his career, including details about the fluctuations in his salary and wages, and we examine the most important diplomatic and other duties he carried out. Particular attention has been paid to his knowledge of the foreign languages that are mentioned in the archival documents: German (“tsesarskii”, literally ‘imperial’), French, Polish, Latin, Hungarian, and Ruthenian (“belorusskii”). Moreover, we have compared some of Tiazhkogorskii’s draft translations from German, French, and Latin – as far as they survive in the archives – with the foreign originals. This analysis allows us to trace elements of Tiazhkogorskii’s “foreign accent” in his Russian translations. Our paper corrects some inaccuracies that have appeared in previous studies.
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| 9. |
- Jansson, Olena, Doktorand, 1978-, et al.
(författare)
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Historical Narrative in East Slavic Writing
- 2018
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Ingår i: Slovo. - Uppsala : Uppsala universitet. - 2001-7359. ; :59, s. 95-98
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Tidskriftsartikel (populärvet., debatt m.m.)
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| 10. |
- Jansson, Olena, Doktorand, 1978-, et al.
(författare)
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”Ruriks stamträd” – : en av de ryska skatterna på Carolina Rediviva
- 2018
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Ingår i: Slovo. - Uppsala : Uppsala universitet. - 2001-7359. ; 59, s. 7-39
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Tidskriftsartikel (refereegranskat)abstract
- Among the treasures in the university library in Uppsala (Sweden) is an extraordinary genealogical tree of Russia’s Rurikid rulers, beginning with the legendary Rurik and ending with Tsar Fedor Ivanovič, who died in 1598. Up to now it has not been known where it was produced, when it came into being, and who could have been the scribe of the Russian names. In this paper we argue that the genealogical tree was produced in Sweden and that the scribe for the Russian names was Aleksej Mankiev, who helped the Swedish scholar Johan Gabriel Sparwenfeld by producing fair copies of the latter’s manuscripts. Mankiev’s sojourn in Sweden from 1700 to 1718 gives us a first approximation for the date of the drawing. We think that this can be narrowed down to “around 1715”, given the close relationship between the “Uppsala tree” and the Rurikid genealogy presented in Jadro rossijskoj istorii, a manuscript which was finished in Sweden in 1715, most probably also by “our scribe”, Mankiev.
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