Kuva neCF Gene Hazvirevi Une Cystic Fibrosis
Cystic fibrosis chirwere chakagara nhaka chinokonzera mapapu uye sinus zvirwere, kusakwanisa kubudirira sevana vacheche uye zvinetso zvekudya zvakadai semafuta, zvigadziro kubva kumafuta marbsorption mudumbu kana kuvhiringidzwa kwakanyanya.
Ngatitsvakei nhaka yenzira ye cystic fibrosis, pamwe nematanho ekuwana mwana ari kuwedzera CF kana vabereki vose vari CF vatakuri.
Cystic Fibrosis: Autosomal Recessive Disease
Munhu wose ane 23 maviri emakromosomes mune imwe sero. Pamamwe makumi maviri nemaviri maviri, rimwe divi ndiro chromosomes yepabonde (iyo X chromosome neY chromosome) uye mamwe maviri maviri emakromosomes anonzi autosomes.
Chero rimwe nerimwe mapepa echromosome ane maitiro akasiyana-siyana, asi kwete chaiyo mamwe mazita emagetsi. Semuenzaniso, ma chromosomes maviri ari maviri anotarisa bvudzi rutsvuku achava nemuvara wepavara, asi imwe inogona kuva yakaonda uye imwe imwe blonde.
Cystic fibrosis inokonzerwa nekuchinja kwe cystic fibrosis transmembrane regulator (CFTR) gene. Kana iwe uri CF carrier, zvinoreva kuti imwe yemagetsi ako eCFTR ndeyezvakanaka, uye imwe yacho inoshanduko inozivikanwa kuti inokonzera cystic fibrosis.
Cystic fibrosis inongowanikwa apo mapepa maviri eCFTR gene ane mutation-ichi ndicho chikonzero cystic fibrosis inonzi chirwere chinodhaka chinodhaka, zvakasiyana nechirwere chinotyisa chinowedzera (mune imwe chete kopi yemutumbi inotapurirwa inodiwa pakukura kwezvirwere) .
Iko-clincher ndeyekuti iwe newawakaroorana naye muri vaviri CF vatakuri, iwe unogona kudarika CF kune mwana wako. Izvi ndezvokuti mwana wako achagara nhaka yechromosome imwe neimwe kubva kwauri, uye imwe kubva kune wako. Kana mwana wako akawana makopiomome ane chrisosome inonzi CFTR gene, inenge iine mabhuku maviri akachinja uye ichazvarwa ne cystic fibrosis.
Kana mwana wako achiwana chromosome inotapurika kubva kune mumwe wenyu uye imwe yakasiyana kubva kune imwe, iyo ichava mutakuri weCF, asi haina cystic fibrosis. Kana mwana wako achiwana chromosome yakatarwa kubva kune imi mose, iye achava nemapepa maviri akaenzana, zvichireva kuti haatakuri uye haana CF.
Cystic Fibrosis: Statistical Possibilities
Heino imwe nzira yekuona kuti zvinorevei kuva CF carrier.
Izvo zvinokwanisika zvinoshandiswa kuti maCF maviri anotakura anogona kupfuudzira kumwana wavo nde:
- Kazhinji CFTR kubva kumamai + kuchinja kubva kunababa = mutakuri
- Kazhinji CFTR kubva kuna baba + kuchinja kubva kumamai = mutakuri
- Kazhinji CFTR kubva kumamai + chaiye CFTR kubva kunababa = kwete mutakuri uye haana CF
- Mutered CFTR kubva kumamai + yakashandura CFTR kubva kuna baba = cystic fibrosis
Kana iwe newawakaroorana navo mose mutakuri, mwana wenyu ane 25 muzana yekana yekuva neCF, 50 muzana yekana yekuva mutakuri, uye 25 muzana mukana wekusada kana kutakura CF.
Kana mumwe wako asiri CF carrier, hazvigoneki kuti mwana wako ave neCF nokuti anogona kungogamuchira zvikamu zvekare zveCFTR gene kubva kune wako. Zvisinei, kana mwana wako akagamuchira mutengesi weCFTR kubva kwauri, iye achava nemikana 25 mukana wekuva mutakuri. Muchiitiko ichi, mwana wako anogona kukwanisa kupfuurira maitiro eCF kuvana vavo.
Zvinorevei Kuve Mutano Wehutano
Kana iwe uri CF carrier, iwe hauzove nezviratidzo zve cystic fibrosis uye haufaniri kunetseka nezvekuvandudza chirwere chacho. Mukuwedzera, kuva CF carrier hazvidi kupfupisa mararamiro ako kana kukugadzirisa chero ipi zvayo (kunze kwekuronga mhuri).
Paunotanga kufunga nezvekuva nevana , iwe newawakaroorana naye munofanira kutsvaga mazano ekugadzirisa mazita ekugadzirisa maitiro enyu akabatanidzwa ekupfuura CF kune vana venyu vari mberi. Kunyanya, iwe unogona kuona kana iwe newawakaroorana navo muri CF vatakuri nekutarisa ropa kuongorora CF gene.
Shoko Rinobva
Mhedziso yekupedzisira kuziva ndeyokuti vasati vaberekwa maitiro ekuongorora, vazhinji vevanhu havana kuziva kuti vaiva neCF kusvikira vaine zviratidzo.
Iye zvino, kana mucheche ane chirwere chakanaka cheCF chizvarwa chekuongorora, iye achawana chirwere che chloride test kuti aone kuonekwa kweCF.
Ne sweat chloride test, munyu wechipfuva chemucheche wechicheche unoyera. Vanhu vane CF vane unhu husinganzwisisiki wepamunyu mumushuga wavo nekuda kwekushaya simba girasi gland basa.
Nekufungidzirwa kwepakutanga, kutarisirwa pasi peboka reMuCF rezvehutano rinogona kutangwa nokukurumidza. Dare iri rinowanzosanganisira vanachiremba (kunyanya chiremba wemapapu ane unyanzvi muCF), vanachiremba, chirembai, mushonga wekupemha, mutapi wepanyama, chiremba wepfungwa, uye mushandi wepabonde.
> Sources:
> Torpy JM, Lynm C, Glass RM. Cystic fibrosis. JAMA Mwoyo Murefu. JAMA . 2009; 302 (10): 1130.
> University of Virginia Health System. (2016). Cystic Fibrosis.