Ibizamini bya gene

Ibizamini bya genetika bireba kuri ADN yawe, urubuga rw’amakuru ya chimique rutanga amabwiriza ku mikorere y’umubiri wawe. Ibizamini bya genetika bishobora kugaragaza impinduka (mutation) muri gene zawe zishobora gutera indwara cyangwa uburwayi. Nubwo ibizamini bya genetika bishobora gutanga amakuru akomeye mu gusobanura, kuvura no gukumira indwara, hariho utudomo. Urugero, niba uri umuntu muzima, igisubizo cyiza cyavuye mu bizamini bya genetika ntibibuza ko uzagira indwara. Ku rundi ruhande, mu bihe bimwe na bimwe, igisubizo kibi ntikigaragaza ko utazakuraho uburwayi runaka.

Ibizamini rya genetika rigira uruhare runini mu kumenya ibyago byo kurwara indwara zimwe na zimwe, ndetse no gupima no kuvura rimwe na rimwe. Ubwoko butandukanye bw'ibizamini bya genetika bukorwa bitewe n'impamvu zitandukanye: Ibizamini byo kumenya indwara. Niba ufite ibimenyetso by'indwara ishobora guterwa n'impinduka za gene, rimwe na rimwe bizwi nka gene zahindutse, ibizamini bya gene bishobora kugaragaza niba ufite iyo ndwara bakeka. Urugero, ibizamini bya gene bishobora gukoreshwa mu kwemeza indwara ya cystic fibrosis cyangwa Huntington. Ibizamini byo kumenya ibyago mbere y'ibimenyetso. Niba ufite amateka y'umuryango w'ikibazo cya gene, gukora ibizamini bya gene mbere y'uko ugira ibimenyetso bishobora kugaragaza niba uri mu kaga ko kurwara iyo ndwara. Urugero, ubu bwoko bw'ibizamini bushobora kuba ingirakamaro mu kumenya ibyago byo kurwara kanseri zimwe na zimwe za colorectal. Ibizamini byo kumenya abantu batwaye indwara. Niba ufite amateka y'umuryango w'indwara ya gene - nka sickle cell anemia cyangwa cystic fibrosis - cyangwa uri mu bwoko bw'abantu bafite ibyago byinshi byo kurwara indwara runaka ya gene, ushobora guhitamo gukora ibizamini bya gene mbere yo kubyara. Ibizamini byo kumenya abantu batwaye indwara byagutse bishobora kumenya gene zifitanye isano n'indwara nyinshi za gene n'impinduka, kandi bishobora kumenya niba wowe n'uwo mwashakanye muri abantu batwaye indwara imwe. Ibizamini bya pharmacogenetics. Niba ufite ikibazo cy'ubuzima cyangwa indwara runaka, ubu bwoko bw'ibizamini bya gene bushobora gufasha kumenya imiti n'umwanya bizakubereye ingirakamaro kandi bikakugirira akamaro. Ibizamini byo kumenya indwara mu gihe cyo gutwita. Niba utwite, ibizamini bishobora kumenya ubwoko bumwe bw'ibihungabana muri gene z'umwana wawe. Down syndrome na trisomy 18 syndrome ni indwara ebyiri za gene zikunze gupimwa nk'igice cy'ibizamini bya gene mu gihe cyo gutwita. Ubusanzwe ibi bikorwa harebwa ibimenyetso mu maraso cyangwa hakoreshejwe ibizamini byangiza nk'amniocentesis. Ibizamini bishya bizwi nka cell-free DNA testing bireba DNA y'umwana hakoreshejwe igipimo cy'amaraso gikorerwa nyina. Ibizamini byo gupima abana bavutse. Iki nicyo gipimo cyo gupima gene gikunze gukoreshwa. Muri Leta Zunze Ubumwe za Amerika, leta zose zisaba ko abana bavutse bapimwa kuri zimwe mu ndwara za gene na metabolic ziterwa n'ibibazo bimwe na bimwe. Ubu bwoko bw'ibizamini bya gene ni ingenzi kuko niba ibizamini bigaragaje ko hari indwara nka congenital hypothyroidism, sickle cell disease cyangwa phenylketonuria (PKU), ubuvuzi n'ubuvuzi bishobora gutangira ako kanya. Ibizamini byo gupima imbuto mbere yo kubyara. Bizwi kandi nka preimplantation genetic diagnosis, iki kizamini gishobora gukoreshwa mugihe ugerageza kubyara umwana hakoreshejwe in vitro fertilization. Imbuto zirapimwa kugira ngo harebwe niba hari ibibazo bya gene. Imbuto zitagira ibibazo bya gene zishyirwa mu kibuno mu rwego rwo kugerageza gutwita

Ubusanzwe, ibizamini bya genetika nta kaga gakomeye bifite ku mubiri. Ibizamini byifashisha amaraso n'agapfunyika kakuwe mu gatuza nta kaga na mba bifite. Ariko, ibizamini byo kureba ubuzima bw'umwana uri mu nda nka amniocentesis cyangwa chorionic villus sampling bifite ibyago bike byo gutakaza imbanyi (gukoma). Ibizamini bya genetika bishobora kugira ibyago ku bitekerezo, imibanire n'imari. Banza muganire ku byago byose n'akarusho k'ibizamini bya genetika na muganga wawe, inzobere mu bya genetika cyangwa umujyanama mu bya genetika mbere y'uko ukora ikizamini cya genetika.

Mbere yo gupimisha imirire, komora amakuru menshi uko bishoboka ku mateka y'ubuzima bw'umuryango wawe. Hanyuma, ganira na muganga wawe cyangwa umujyanama w'imirire ku mateka yawe bwite n'ay'umuryango wawe kugira ngo umenye neza ibyago byawe. Baza ibibazo kandi ubanze ibyo uhangayikishijweho bijyanye no gupimisha imirire muri iyo nama. Nanone, banza amahitamo yawe, bitewe n'ibisubizo byo gupima. Niba uri gupimwa indwara y'imirire ikwirakwira mu muryango, ushobora kwifuza kuganira n'umuryango wawe ku cyemezo cyawe cyo gupimisha imirire. Kugira ibiganiro nk'ibi mbere yo gupima bishobora gutuma umenya uko umuryango wawe ushobora kwakira ibisubizo byawe byo gupima n'uko bishobora kubagiraho ingaruka. Si amasezerano yose y'ubwisungane bw'ubuzima yishyura ibipimo by'imirire. Rero, mbere yo gupimisha imirire, reba ikigo cy'ubwisungane bwawe kugira ngo urebe icyazatangwa. Muri Leta Zunze Ubumwe za Amerika, itegeko rya Leta Zunze Ubumwe za Amerika ryo kurwanya ivangura rishingiye ku bumenyi bw'imirire ryo mu 2008 (GINA) rifasha gukumira abashinzwe ubwishingizi bw'ubuzima cyangwa abakoresha kudutandukanya dukurikije ibisubizo byo gupima. Muri GINA, ivangura mu kazi rishingiye ku byago by'imirire nabyo bitemewe. Ariko, iri tegeko ntirikubiyemo ubwishingizi bw'ubuzima, ubwishingizi bw'igihe kirekire cyangwa ubwishingizi bw'ubuzi. Intara nyinshi zitanga uburinzi bwiyongereye.

Bishingwe n'ubwoko bw'isuzuma, igice cy'amaraso yawe, uruhu, amazi yo mu kibuno cyangwa undi mubiri bizatoranywa bikoherezwa muri laboratwari kugira ngo bipimwe. Igipimo cy'amaraso. Umwe mu bagize itsinda ry'ubuzima bwawe azatwara icyitegererezo ashingira umusego mu mutsi wo mu kuboko kwawe. Ku bipimo byo gusuzuma abana bavutse, igipimo cy'amaraso gifatwa no gutobora agatsinsino k'umwana wawe. Gusukura itama. Ku bipimo bimwe na bimwe, icyitegererezo cy'igisukwa gifatwa mu gice cy'imbere cy'itamata cyatoranywa kugira ngo hakorwe isuzuma rya gene. Amniocentesis. Muri iki kizamini cya gene mbere y'uko umwana avuka, muganga wawe ashyira umusego muto, utoshye, unyura mu nda yawe maze ajya mu kibuno cyawe kugira ngo atoranye igice gito cy'amazi yo mu kibuno kugira ngo apimwe. Gutoranya umubiri wa chorionic villus. Kuri iki kizamini cya gene mbere y'uko umwana avuka, muganga wawe afata icyitegererezo cy'umubiri ukomoka kuri placenta. Bishingwe ku mimerere yawe, icyitegererezo gishobora gufatwa n'imigozi (catheter) inyura mu kiziba cyawe cyangwa inyura mu nda yawe n'ikibuno hakoreshejwe umusego muto.