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22.
  • A Hulten, Maj, et al. (författare)
  • On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model
  • 2010
  • Ingår i: Reproduction. - 1470-1626 .- 1476-3990. ; 139:1, s. 1-9
  • Forskningsöversikt (refereegranskat)abstract
    • We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. in particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent large-scale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.
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24.
  • A.O., Tillmar, et al. (författare)
  • Using X-chromosomal markers in relationship testing: Calculation of likelihood ratios taking both linkage and linkage disequilibrium into account
  • 2011
  • Ingår i: Forensic Science International: Genetics. - : Elsevier BV. - 1872-4973 .- 1878-0326. ; 5:5, s. 506-511
  • Tidskriftsartikel (refereegranskat)abstract
    • X-chromosomal markers in forensic genetics have become more widely used during recent years, particularly for relationship testing. Linkage and linkage disequilibrium (LD) must typically be accounted for when using close X-chromosomal markers. Thus, when producing the weight-of-evidence, given by a DNA-analysis with markers that are linked, the normally used product rule is invalid. Here we present an implementation of an efficient model for calculating likelihood ratios (LRs) with markers on the X-chromosome which are linked and in LD. Furthermore, the model was applied on several cases based on data from the eight X-chromosomal loci included in the Mentype® Argus X-8 (Biotype). Using a simulation approach we showed that the use of X-chromosome data can offer valuable information for choosing between the alternatives in each of the cases we studied, and that the LR can be high in several cases. We demonstrated that when linkage and LD were disregarded, as opposed to taken into account, the difference in calculated LRs could be considerable. When these differences were large, the estimated haplotype frequencies often had a strong impact and we present a method to estimate haplotype frequencies. Our conclusion is that linkage and LD should be accounted for when using the tested set of markers, and the used model is an efficient way of doing so.
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29.
  • Aaboen, Lise, 1978, et al. (författare)
  • Nourishment for the piggy bank : facilitation of external financing in incubators
  • 2011
  • Ingår i: International Journal of Technology Transfer and Commercialisation. - : Inderscience. - 1470-6075 .- 1741-5284. ; 10 3-4, s. 354-374
  • Tidskriftsartikel (refereegranskat)abstract
    • In this paper, we argue that incubators facilitate access to external financing for their incubatees. Incubators use a wide range of activities to facilitate the accessing of external financing from public and private sources. We have grouped these into two sets of activities. The general activities aim to develop the conditions for external financing through information, education of incubatees, network-building and lobbying activities. The specific activities aim to assist the individual incubatee in their pursuit of external finance through help in application procedures, establishing need for capital, making contacts with the best public or private investor, etc. Based on the survey data, we have also shown that it is more common for incubatees to attract external capital compared to non-incubator firms. The incubatees seem especially successful in attracting public capital. The incubatees also attract more private external capital, however, the observed frequency of private capital in the incubatees are low.
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