Maitiro eCF Gene Defect Anopedzerwa mumhuri
Iwe unogona kushamisika kuziva kuti cystic fibrosis (CF) haisi chirwere chisingawanzoitiki. Kuita vanhu vanenge 30 000 muUnited States uye vanhu 100 000 munyika yose, ndiyo inowanzoshandiswa pakugadzirisa zvirwere zvakagara nhaka muCaucasians. Chirwere ichi chinowanikwa mune mamwe madzinza, asi zvishoma nezvishoma.
Cystic fibrosis inokonzerwa nechirema mu cystic fibrosis transmembrane regulator (CFTR) gene.
Iko kune mazana anopfuura 1200 anozivikanwa mutations eCFTR gene anogona kukonzera cystic fibrosis. Nzira iyo CFTR chiremera chechiremera inopfuudzwa kubva kuvabereki kusvika kuvana inobva pane zvishoma.
Kuzvidzivirira Kwekudzoka uye Kusina Zvepabonde-Kunobatana
Vanhu vose vane 22 mapaundi ema-chromosomes asina kubatana-zvepabonde uye chromosomes mbiri dzakabatana. Vane 22 vasina zvepabonde-vakawirirana vanonzi autosomal chromosomes. Ijeni risina kukwana mu cystic fibrosis (CFTR gene) rinoitika mumakromosomes maviri echinomwe. Sezvo inowanikwa mune imwe yekutanga makumi maviri nemaviri emakromosomes, tsvina ye cystic fibrosis inoshandiswa. Hazvisi zvepabonde-zvakabatana, naizvozvo chirwere chacho hachina kupfurikidzwa naamai kana baba chete uye chinogona kuitika mune zvepabonde.
Kudzokorora zvinoreva kuti ma chromosomes maviri muviri anofanira kuva asina kukwana kuitira kuti ave nechirwere-vabereki vose vanofanira kunge vakatakura geni remuwana kuti ave neCF. Kana munhu ane chirwere chimwe chete chisingabviri chromosome, iye achange achitakura asi haazombovi nechirwere ichi.
Mwana Anogona Sei Kupiwa Nhaka CF Kana Hapana Munhu Mune Mhuri Ane Izvo?
Sezvo CF iine tsika yakawanda, mwana anofanira kugamuchira maitiro maviri asina kukwana kuitira kuti aberekwe ane chirwere. Sezvo neyese miviri yechromosome, imwe inotora nhaka kubva kuna amai uye imwe inotora nhaka kubva kuna baba. Izvi zvinoreva kuti vabereki vose vanofanira kutakura chirongwa che cystic fibrosis kana kuti vane CF ivo pachavo kuitira kuti vave necheche neCF.
Vanhu vari vatakuri vane imwe chete yakashata geni. Havazove neCF uye havazove nezviratidzo. Inenge 4 muzana yeCaucasians vose vane CF vatakuri.
Kana vabereki vose vari vatakuri veCFTR gene, ipapo pane mukana we25% kuti mwana wavo achava neCF kana kuti 50% mukana wekuti mwana achava mutakuri wejeni asi asina chirwere uye 25% mukana wekuti mwana haazovi mutakuri zvachose.
Panogona kuva nezvizvarwa zvizhinji zvevatakuri mumhuri pasina munhu anombova nechirwere ichi. Kazhinji, vanhu havazivi kuti ivo vanotakura kusvikira mwana wavo aberekwa neCF. Kuongorora zvirwere kunowanikwa kuti uone kana munhu ane chirwere cheCF, asi hachiwanzoitwa kunze kwekuti vaviri vane chikonzero chokufungidzira kuti vangave vatakuri.
Ichokwadi, vose vana nevakuru vanogona kuongororwa kweCF gene inotapurirwa nemuromo we swab kana samuu reropa kuti vaone kana vari vatakuri. Kunyangwe kuongororwa kwevatakuri kune yakarurama kwazvo, dzimwe shanduko hazvionekwi-saka munhu anoedza kusakanganiswa kweCF mutation angave ari mutakuri.
Sources:
Boyle, MP, MD. "Mukuru Cystic Fibrosis." Journal yeAmerican Medical Association. 2007 298: 1787-1793.
The Genetics of Cystic Fibrosis. University of Virginia Health System. November 7, 2005.