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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03149naa a22003493a 4500 | |
| 001 | 22099984 | |
| 003 | SE-LIBR | |
| 005 | 20171211083246.0 | |
| 007 | cr|||||||||||| | |
| 008 | 171211s2013 sw |||| o |||| ||eng c | |
| 024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2043312 uri |
| 024 | 7 | a urn:nbn:se:uu:diva-2043312 urn |
| 024 | 7 | a 10.1136/postgradmedj-2012-101322rep2 doi |
| 040 | a S | |
| 041 | 0 | a eng |
| 042 | 9 EPLK | |
| 100 | 1 | a Forsberg, Lars A.4 aut |
| 245 | 1 0 | a Non-heritable genetics of human diseaseh [Elektronisk resurs]b spotlight on post-zygotic genetic variation acquired during lifetime (Reprinted from vol 50, pg 1-10, 2013) |
| 260 | c 2013 | |
| 500 | a Published | |
| 506 | 0 | a gratis |
| 520 | a The heritability of most common, multifactorial diseases is rather modest and known genetic effects account for a small part of it. The remaining portion of disease aetiology has been conventionally ascribed to environmental effects, with an unknown part being stochastic. This review focuses on recent studies highlighting stochastic events of potentially great importance in human disease-the accumulation of post-zygotic structural aberrations with age in phenotypically normal humans. These findings are in agreement with a substantial mutational load predicted to occur during lifetime within the human soma. A major consequence of these results is that the genetic profile of a single tissue collected at one time point should be used with caution as a faithful portrait of other tissues from the same subject or the same tissue throughout life. Thus, the design of studies in human genetics interrogating a single sample per subject or applying lymphoblastoid cell lines may come into question. Sporadic disorders are common in medicine. We wish to stress the non-heritable genetic variation as a potentially important factor behind the development of sporadic diseases. Moreover, associations between post-zygotic mutations, clonal cell expansions and their relation to cancer predisposition are central in this context. Post-zygotic mutations are amenable to robust examination and are likely to explain a sizable part of non-heritable disease causality, which has routinely been thought of as synonymous with environmental factors. In view of the widespread accumulation of genetic aberrations with age and strong predictions of disease risk from such analyses, studies of post-zygotic mutations may be a fruitful approach for delineation of variants that are causative for common human disorders. | |
| 650 | 7 | a Medical and Health Sciences2 hsv |
| 650 | 7 | a Medicin och hälsovetenskap2 hsv |
| 700 | 1 | a Absher, Devin4 aut |
| 700 | 1 | a Dumanski, Jan Piotr4 aut |
| 710 | 1 2 | a Uppsala universitetb Medicinska och farmaceutiska vetenskapsområdet4 pbl |
| 772 | 1 8 | i channel recordw 19753896 |
| 773 | 0 8 | i Värdpublikationt Postgraduate medical journalg 89:1053, 417-426x 0032-5473 |
| 856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-204331 |
| 856 | 4 0 | u http://dx.doi.org/10.1136/postgradmedj-2012-101322rep |
| 856 | 4 0 | u http://uu.diva-portal.org/smash/get/diva2:638446/FULLTEXT01 |
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