Egzom

Egzom je dio genoma koji je formiran od egzona – sekvenci koje nakon transkripcije ostaju u zrelim molekulama RNK (iRNK), nakon uklanjanja introna. Sastoji se od svih DNK koje se transkribuju u zrele RNK u ćelijama bilo koje vrste, za razliku od transkriptoma, koji je skup RNK koja se transkribira samo u određenoj populaciji ćelija. U egzomu od ljudskog genoma ima oko 180.000 egzona, koji čine oko 1% ukupnog genoma ili oko 30 megabaza DNK.

Iako čine vrlo mali dio genoma, smatra se da mutacije u egzomu učestvuju u 85% ukupnih mutacija i da imaju veliki utjecaj na pojavu bolesti. Sekvenciranje egzoma je pokazalo da je to efikasna strategija za utvrđivanje genetičke osnove više od dva tuceta Mendelovskih ili monogenskih osobina.^[1].

Primjeri istraživačkih projekata koji su primijenili sekvenciranje egzoma uključuju neprofitni Personalni genomski projekt (PGP), neprofitni Institut za rijetke bolesti^[2]^[3], koji finansira Neprofitni istraživački institut za genetiku čovjeka (NHGR).^[4]^[5]^[6]^[7]^[8]^[9]^[10]^[11]

Također pogledajte

Reference

^ Bamshad M. J., et al. (2011): Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet., 12 (11): 745–755 |doi=10.1038/nrg3031 |pmid=21946919.
^ http://www.raregenomics.org Rare Genomics Institute (RGI).
^ http://www.nhlbi.nih.gov/resources/exome.htm Arhivirano 20. 12. 2010. na Wayback Machine Exome Project.
^ http://www.nhlbi.nih.gov/resources/geneticsgenomics/programs/mendelian.htm Arhivirano 27. 4. 2012. na Wayback Machine Mendelian Exome Project.
^ http://esp.gs.washington.edu/drupal/ Arhivirano 2. 9. 2015. na Wayback Machine Grand Opportunity Exome Sequencing Project an microarray-based.
^ http://www.nimblegen.com/products/seqcap/ez/v2/index.html Arhivirano 9. 8. 2015. na Wayback Machine Nimblegen SeqCap EZ Exome from Roche Applied Science.
^ Rare Genomics Institute (RGI), NIH.
^ http://www.nhlbi.nih.gov/resources/exome.htm Arhivirano 20. 12. 2010. na Wayback Machine Exome Project, NHGRI.
^ http://www.nhlbi.nih.gov/resources/geneticsgenomics/programs/mendelian^{[mrtav link]}. htm Mendelovski Exome Project, NHLBI.
^ https://esp.gs.washington.edu/drupal/ Arhivirano 2. 9. 2015. na Wayback Machine Grand Opportunity Exome Sequencing Project.
^ http://www.nimblegen.com/products/seqcap/EZ/V2/index.html Arhivirano 9. 8. 2015. na Wayback Machine Nimblegen SeqCap EZ Exome, Roche Applied Science.

[1] Bamshad M. J., et al. (2011): Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet., 12 (11): 745–755 |doi=10.1038/nrg3031 |pmid=21946919.

[2] ttp://www.raregenomics.org Rare Genomics Institute (RGI).

[3] ttp://www.nhlbi.nih.gov/resources/exome.htm Arhivirano 20. 12. 2010. na Wayback Machine Exome Project.

[4] ttp://www.nhlbi.nih.gov/resources/geneticsgenomics/programs/mendelian.htm Arhivirano 27. 4. 2012. na Wayback Machine Mendelian Exome Project.

[5] ttp://esp.gs.washington.edu/drupal/ Arhivirano 2. 9. 2015. na Wayback Machine Grand Opportunity Exome Sequencing Project an microarray-based.

[6] ttp://www.nimblegen.com/products/seqcap/ez/v2/index.html Arhivirano 9. 8. 2015. na Wayback Machine Nimblegen SeqCap EZ Exome from Roche Applied Science.

[7] Rare Genomics Institute (RGI), NIH.

[8] ttp://www.nhlbi.nih.gov/resources/exome.htm Arhivirano 20. 12. 2010. na Wayback Machine Exome Project, NHGRI.

[9] ttp://www.nhlbi.nih.gov/resources/geneticsgenomics/programs/mendelian^{[mrtav link]}. htm Mendelovski Exome Project, NHLBI.

[10] ttps://esp.gs.washington.edu/drupal/ Arhivirano 2. 9. 2015. na Wayback Machine Grand Opportunity Exome Sequencing Project.

[11] ttp://www.nimblegen.com/products/seqcap/EZ/V2/index.html Arhivirano 9. 8. 2015. na Wayback Machine Nimblegen SeqCap EZ Exome, Roche Applied Science.

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