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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 087 03 - Diskussion
Zuletzt bearbeitet: 2014-12-14 22:31:23 Graf Isolan
BauernOpfer, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Walsh and Bracken 2011

Typus
BauernOpfer
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Hindemith
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Untersuchte Arbeit:
Seite: 87, Zeilen: 3-19
Quelle: Walsh and Bracken 2011
Seite(n): 377, 380, 381, Zeilen: 377: r.col: 7 ff.; 380: l.col: 21 ff.; 381: r.col: 7 ff.
The first theory, referred as the “common gene/common disease” hypothesis, is that common diseases result from the additive or multiplicative effects of genetic and environmental factors. Common genetic variants confer only a small increased risk to a given individual, but because of the high frequency with which these variants are found, each has a large attributable risk among the population (Weiss 2009). An alternative to the “common gene/common disease” hypothesis is that ASDs are caused not only by common variants of small effect but also by rare highly penetrant variants such as chromosomal deletions and duplications (Kusenda 2008). A substantial proportion of idiopathic autism may be attributable to CNVs. Two recent studies detected de novo CNVs in 7–10% of autistic cases from simplex families, 2–3% of cases from multiplex families, and in 1% of controls (Marshall 2008). These results not only implicate CNVs in the aetiology of autism but also indicate that different genetic mechanisms may underlie sporadic, versus familial, autism. Microdeletions and microduplications of chromosome 16p11.2 have been found at varying frequencies among individuals diagnosed with ASDs. Microdeletions are a more common cause of ASDs than the reciprocal microduplication (0.50% vs. 28%, respectively) (Walsh 2011).

39. Kusenda M & Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 2008;123:36–43.

48.Marshall CR, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477– 488.

83.Walsh KM & Bracken MB. Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. Genet Med. 2011 May;13(5):377-84.

85.Weiss LA, et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802– 808.

Microdeletions and microduplications of chromosome 16p11.2 have been found at varying frequencies among individuals diagnosed with an ASD.

[page 380]

The prevailing hypothesis for the genetic etiology of autism has largely been the same as that for other common diseases and is widely referred to as the “common gene/common disease” hypothesis. The theory is that common diseases result from the additive or multiplicative effects of genetic and environmental factors. Under this paradigm, common genetic variants confer only a small increased risk to a given individual, but because of the high frequency with which these variants are found, each has a large attributable risk among the population. This hypothesis is readily tested using genome-wide association studies, and such studies have had some successes in unraveling autism biology.31–33

An alternative to the “common gene/common disease” hypothesis is that ASDs are caused not only by common variants of small effect but also by rare highly penetrant variants such as chromosomal deletions and duplications.34 [...]

A substantial proportion of idiopathic autism may be attributable to CNVs.34 Two recent studies detected de novo CNVs in 7–10% of autistic cases from simplex families, 2–3% of cases from multiplex families, and in 1% of controls.16,18 These results not only implicate CNVs in the etiology of autism but also indicate that different genetic mechanisms may underlie sporadic, versus familial, autism.

[page 381]

[...] microdeletions are a more common cause of ASDs than the reciprocal microduplication (0.50% vs. 28%, respectively).


16. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477– 488.

18. Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007;316:445– 449.

31. Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins, the Autism Consortium, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802– 808.

32. Ma D, Salyakina D, Jaworski JM, et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 2009;73(Pt 3):263–273.

33. Autism Genome Project Consortium, Szatmari P, Paterson AD, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319 –328.

34. Kusenda M, Sebat J. The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 2008;123:36–43.

Anmerkungen

The source is mentioned at the end, but the reader cannot know that also the passages referenced with other literature are taken from the source.

Sichter
(Hindemith), SleepyHollow02

[2.] Mmu/Fragment 087 22 - Diskussion
Zuletzt bearbeitet: 2016-02-06 20:31:52 Schumann
BauernOpfer, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop, Walters et al 2010

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Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 87, Zeilen: (21-22).22-26
Quelle: Walters et al 2010
Seite(n): 673, Zeilen: left col. 21-25
Furthermore Walters et al; demonstrated that a 16p11.2 deletion give rise to a strongly-expressed obesity phenotype. Possible explanations include a direct causal relationship between obesity and developmental delay; the involvement of the same or related regulatory pathways; or different outcomes of the same set of behavioural disorders with complex pleiotropic effects and variable ages of onset and expressivities (Walters 2010).

84. Walters R. G. et al. A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2. Nature. 2010 February 4; 463(7281): 671–675

Possible explanations include a direct causal relationship between obesity and developmental delay, the involvement of the same or related regulatory pathways, or different outcomes of the same set of behavioural disorders with complex pleiotropic effects and variable ages of onset and expressivities.
Anmerkungen

The source is mentioned at the end, but the reader cannot know that this passage has been copied verbatim.

Sichter
(Graf Isolan), SleepyHollow02


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