Indlela i-CF Gene Defect isedluliselwa ngayo kwiintsapho
Ungamangaliswa ukuba ufunde i- cystic fibrosis (CF) ayiyinto engavamile. Ukuchaphazela abantu abangaba ngu-30 000 e-United States kunye nabantu abayi-100,000 emhlabeni wonke, yinto eqhelekileyo yokuzigcina i-autosomal disease . Esi sifo senziwa nakwezinye iintlanga, kodwa kaninzi kangako.
I-Cystic fibrosis ibangelwa isiphako kwi- cystic fibrosis i-transmembrane regulator (CFTR).
Kukho iingu-1200 eziguqulwayo zigugu zegciwane leCFTR ezingabangela i-cystic fibrosis. Indlela eyahlula ngayo i-CFTR yefayili yesalathisi esuka kubazali kuya kubantwana ixhomekeka kwizinto ezimbalwa.
I-Autosomal I-Recossive and Non-Sex-Linked
Bonke abantu baneembini ezingama-22 zama-chromosomes ezingaxhatshazwa ngesini kunye nama-chromosomes amabini axhumene ngesondo. Amaqela angama-22 angabambanga ngesondo axelwa ngama-chromosomes autosomal. Imfuza engenasiphelo kwi-cystic fibrosis (i-CFTR gene) ivela kwi-chromosomes yeesibini. Ekubeni kuvela kwenye yeembini ze-22 zokuqala zama-chromosomes, isiphene se-cystic fibrosis siyi-autosomal. Akuxhatshazwa ngesondo, ngoko isifo asizange sidluliselwe ngumama okanye utata kuphela kwaye sinokuthi senzeke ngesini.
Ukuphindaphinda kuthetha ukuba zombini i-chromosomes kwisibini kufuneka ibe nesiphene ukwenzela ukuba isifo-bobabini abazali kufuneka babe ngabathwali be-gene ukuze umntwana abe neCF. Ukuba umntu une-chromosome enye ephosakeleyo, uya kuba ngumthwali kodwa akayi kuba nesifo.
Umntwana Unokuzuza Njani Ifa CF Ukuba Akukho Nabanye Entsapho?
Ekubeni i-CF yinto ehlukumezayo, umntwana kufuneka athathe iimbalo ezimbini zokukhubazeka ukuze azalwe nesifo. Njengawo onke amabini e-chromosome, omnye uzuzwa kumama kwaye omnye uzuze kwifa. Oku kuthetha ukuba bobabini abazali kufuneka baphathe umkhondo we-cystic fibrosis okanye babe neCF ngokwabo ukuze babe nosana ngeCF.
Abantu abathwala imithwalo banesifo esisodwa esingafanelekanga. Abayi kuba neCF kwaye abayi kuba naziphi iimpawu. Phantse i-4% yazo zonke iCaucasian yiCF.
Ukuba ngaba bobabini abazali baphethe i-gene yeCFTR, i-25% inethuba lokuba umntwana wabo uya kuba neCF okanye ithuba eli-50% lokuba umntwana uya kuba ngumphathiswa we-gene kodwa angenaso isifo kunye nethuba elingama-25% umntwana akayi kuba ngumphathiswa nhlobo.
Kukho ininzi izizukulwana zabathwali kwintsapho ngaphandle kokuba umntu abe nesifo. Ngokuqhelekileyo, abantu abazi ukuba bayithwala kuze kube yilapho umntwana wabo wazalelwa ngeCF. Uvavanyo lwe-Genetic lufumaneka ukuba lunqume ukuba umntu uphethe i-CF, kodwa akwenzeki ukuba kwenziwe ngaphandle kokuba isibini sinesizathu sokusola ukuba singabathwali.
Enyanisweni, bobabini nabadala banokuvavanyelwa i-gene ye-CF iguqulwe nge-swab yomlomo okanye isampuli yegazi ukubona ukuba ngaba ngabaphathi. Nangona uvavanyo lwezithuthi luchanekile kakhulu, ezinye izitshintsho azibonakali-ngoko umntu ovavanya kakubi ukuguqulwa kwe-CF angenokuba ngumphathiswa.
Imithombo:
UBoyle, MP, MD. "I-Adult Cystic Fibrosis." I- Journal ye-American Medical Association. 2007 298: 1787-1793.
I-Genetics yeCystic Fibrosis. IYunivesithi yaseVirginia yeMpilo. Novemba 7, 2005.