Isbedelo hiddo

Isbedelo Gene - in sabab u yahay oo waa formation of koox Nuurre Aw ee daliilka kiliinikada ee cudurka, kuwaas oo loo yaqaan "cudurka hidde". inta jeer ee guud ahaan ay dhacdo in dadka aadanaha by labo ilaa afar boqolkiiba.

Change (isbedel) hiddo waxaa iska xanaajin horumarinta noocyo badan oo cudurro kala dhaxlo factor. In daawada casriga ah, ku tilmaamay in ka badan saddex kun oo heley kuwan. muujinta ugu badan ee cudurka waa fermentopathy. Waxaa la rumeysan yahay in Isbedelo hiddo saamayn ku yeelan karaan uurjiifka, gaadiidka iyo borotiinada dhismaha. isbedel bahal la fulin karo in waqtiyada kala duwan ee ontogenesis (horumarka). Waxay caadiga ah ee ugu badan ee intrauterine ah (ilaa 25% ka mid ah heley dhaxlo) iyo dopubertatnogo (ka hor qaangaadhnimada) muddo (45%). Isbedelo Gene dhacaan qaan (qaangaadhnimada) iyo muddo dhalinyaro ah (25%). Xad lacagta aan qiimo lahayn (10%) lesions ogaado ka badan labaatan sannadood.

cudurada hidde waxaa loo kala saaraa sida uu nooca dhaxalka (autosomal recessive, autosomal xukuma iyo kuwa kale), taas oo ku xidhan xubinta ama nidaamka, wax dheeraad ah ka qeyb gasho geeddi bahal (hormoonada jidhka, muruqyada, indhaha, iwm), iyada oo ku xidhan nooca iin dheefshiidka (la xiriira disorder ee carbohydrate, macdanta iyo dheef kale la egyahay.). Waayo group madax banaan oo ka mid ah cudurada timi ku saabsan asalka ah ee incompatibility uurjiifka iyo hooyada ee cudur ee kooxaha dhiigga.

Huriyay Isbedelo germline, dhaxlo cudurka iyadoo la raacayo shuruucda Mendel. Waxaa laga yaabaa in soo bixitaanka of horumarinta cusub ama dhaxlay, tan iyo qarniyadii la soo dhaafay la beddelo. Xaaladaha noocaas ah, dhismayaasha bahal waxaa loo qaybiyey oo dhan unugyada jirka.

Isbedelo Gene dhici kara in mid ka mid ah unugyada marxaladaha kala duwan ee burburiyo saygoot. Xaaladaha noocaas ah, jirka wuxuu noqonayaa mahrajaan ee qaab-dhismeedka. In si kale loo dhigo, in unugyada qaar ka shaqeeya allele (foomka of hiddo) caadiga ah, iyo in kale - mutant. Isbedelo Lagaga phenotypically muujiyey (calaamado clinical) ee unugyada kala iyo dhirfinaya horumarinta cudurka. Isla mar ahaantaana ay jirto suurtagalnimada ku filan oo cudur ka yar daran, sida ka soo horjeeda ee mutants buuxa.

Khubarada sooco isbeddelka ka dhacay functional iyo dhismaha.

Isbedelo Dhismayaasha hiddo kala qaybsanyihiin gudubka - bedel lagu sameyo mid salka purine (xarunta organic ah taagayo dabiiciga ah, purine) in kale, ama mid ka mid salka pyrimidine (xeryahooda organic - taagayo pyrimidine) by saldhig kale pyrimidine; diidanyihiin codon ah (unit code genetic) badala mid kaliya, taas oo la bedelay ka dhacay. Waxa kale oo jira waa wax sida "transversion" sida. Xaaladdan oo kale waxaa jira bedelka of purine ama pyrimidine saldhigyadii qeybsanaan. Tani waxay isbedel iyo codon ay ku dhacdo bedelka. Intaas waxaa sii dheer, waxaa jira isbedel frameshift. Haddaba waxaa jira khasaare (tirtirka) ama gelinta (galinta) mid ama dhowr lammaane nucleotide. Iyadoo la tixraacayo khasaaraha ama qayb galinta kala duwanaan karaan codons dheeraad ah ama ka yar.

Isbedelo in hiddo-yihiin isbedel functional ee (habaynteeda) qayb ka mid ah non-guuriyeen of a Britain DNA. Tani dhirfinaya disorder ah sharciyeynta shaqaynaya oo ka mid ah xubno ka dhismaha. Tani waxay keeni kartaa in la kordhiyo ama hoos u dhac ku heerka of Avv borotiinka u dhigma darajooyin kala duwan.