Mitä merkitsee deleetio kromosomi17 p?--- Ongelmia Guardian of Genome- p53 suhteen.

https://www.patientpower.info/what-exactly-does-a-17p-deletion-mean
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Question from Sherry:
What is 17p? What exactly does a 17p deletion mean? Does it mean you are missing 17p, or does it mean there is something wrong with it? The word "deletion" is confusing. My FISH report shows 17p-(TP53x1) result as normal.

Dr. Leclair:
You have 46 chromosomes—22 pairs of chromosomes that influence the body as a whole and one pair that determines and regulated gender.
You have a problem with one of the number 17 chromosomes. Chromosomes look like an X
An X with a smaller upper half and a large bottom half. The smaller top part is designated as p.
So a portion of the upper part of chromosome 17 is missing. When you look more closely at the chromosome, you see that the arms of the X have lighter and darker areas and specific information can be found in each of these bands. Here is a drawing of one side of a 17 chromosome and you can see the bands. Within the bands are genes so if you have deleted (lost) a portion, those genes are no longer present.
Within the band that you are missing is a gene that allows the cell to recognize and eliminate cells that don't make the quality grade. It is called p53 and is in a class of genes called tumor suppressor genes. You are missing that, so your cells are unable to use this pathway to prevent and control any malignant cells.
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Missä kohtaa sijaitsee p53 geeni  tässä kromosomissa 17 p?

Otan esiin PubMed hakulaitteella   tiedon hakusanana"p53 GENE". 

•  p53 (Kr. 17p13.1) 

  Suomennosta:  Geenin nimiä ovat p53, BCC7, LFS1, TRP53 

  Siitä on mukava laulu, jota silloin tällöin kuuntelen.

  https://www.youtube.com/watch?v=iGQdwSAAz9I

 Tämä geeni koodaa protiinia joka on tuumorisprressori, jolla on  DNA;taa sitova domeeni, joka aktivoi transkriptiota, sekä  oligomerisaatiodomeeni. Koodautunut proteiini p53 vastaa erilaisiin solustresseihin  säätelemällä kohdegeenejä ja pystyy täten saamaan aikaan solusyklin pyshtymän, apoptoosin, ikämuutoksia, DNA:n korjaantumista tai aineenvaihdunnan muutoksia. 

Tämän geenin mutaatioita liittyy monenlaisiin ihmisessä esiintyviin syöpiin  , niihin kuuluu myös syövän perinnölliset mudoot kuten Li-Fraumeni-oireyhtymä. 

Geenin vaihtoehtoisilla pleissauksilla ja vaihtoehtoisia promoottoreja käyttämällä  tulee monia transkriptivariantteja ja isoformeja. Lisää isoformeja muodostuu, kun identtisistä varianteista translatoituu  vaihtoehtoisella translaatiokodonilla  erilaista sekvenssiä.  Geeniä olmentyy  yleisesti  pernassa, imusolmukkeissa ja 25 muussa kudoksessa.

• P53; BCC7; LFS1; TRP53 SummaryThis gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016] Expression  Ubiquitous expression in spleen (RPKM 13.2), lymph node (RPKM 13.1) and 25 other tissues See more