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Typus
Verschleierung
Bearbeiter
Hindemith
Gesichtet
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Untersuchte Arbeit:
Seite: 92, Zeilen: 20-30
Quelle: Lupski and Stankiewicz 2005
Seite(n): 631, Zeilen: l.col: last sentence
It is not clear to what extent such genomic changes are responsible for Mendelian or complex disease traits and common traits, or represent only benign polymorphic variation. Furthermore, some phenotypes caused by genomic rearrangements may not present until late adulthood. This age-dependent penetrance confounds the interpretation of genomic copy-number changes.

We know that rearrangements occur throughout the genome, and therefore it is plausible to assume that such rearrangements or CNVs could be associated with inherited or sporadic disease, susceptibility to disease, complex traits, or common benign traits, or could represent polymorphic variation with no apparent phenotypic consequences, depending on whether or not dosage-sensitive genes are affected by the rearrangement.

It is not clear to what extent such genomic changes are responsible for Mendelian or complex disease traits and common traits (including behavioral traits), or represent only benign polymorphic variation. [...] Furthermore, some phenotypes caused by genomic rearrangements (e.g., HNPP) may not present until late adulthood — if at all [5,6]. This age-dependent penetrance confounds the interpretation of genomic copy-number changes. [...]

[...] Nevertheless, it is clear that LCR/NAHR-generated rearrangements occur throughout the genome [1,2], and therefore it is not unreasonable to assume that such rearrangements or CNVs could be associated with inherited or sporadic (de novo rearrangement) disease, susceptibility to disease, complex traits, or common benign traits, or could represent polymorphic variation with no apparent phenotypic consequences (Figure 4), depending on whether or not dosage-sensitive genes are affected by the rearrangement.


1. Lupski JR (1998) Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14: 417–422.

2. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18: 74–82.

5. Lupski JR, Garcia A (2001) Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, et al., editors. The metabolic and molecular bases of inherited diseases, 8th ed. New York: McGraw-Hill. pp. 5759–5788.

6. Lupski JR, Chance PF (2005) Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: The CMT1A duplication and HNPP deletion. In: Dyck PJ, Thomas PK, editors. Peripheral neuropathy. Philadelphia: Elsevier Science. pp. 1659–1680.

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Sichter
(Hindemith), SleepyHollow02

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