Wake wezwa 'ngokuhlolwa kwe-DNA' noma 'ukuhlolwa kwezakhi zofuzo'? Mhlawumbe udokotela wakho ukutshelile ngakho, noma uke wakubona ku-movie ku-TV. Kwenzani ngempela? Kunganikeza ulwazi olubalulekile hhayi nje ngezifo emizimbeni yethu, kodwa futhi nangezakhi zofuzo zethu. Ake sixoxe ngakho ngendlela elula ongayiqonda.
Kuyini ngempela ukuhlolwa kwe-DNA?
Kalula nje, ukuhlolwa kwe-DNA, noma ukuhlolwa kwezakhi zofuzo, kubheka ukwehluka kwezakhi zofuzo zakho, ama-chromosome, kanye ne-DNA. Cabanga ngalokhu 'njengemiyalelo' elawula konke emizimbeni yethu. Ukuphakama kwethu, umbala wamehlo, nombala wezinwele akuxhomekile nje kuphela kulezi zakhi zofuzo, kodwa futhi kunquma ukuthambekela kwethu ezifweni ezithile.
Lolu phenyo lungasisiza siqonde ngokujulile amaphuzu amaningana abalulekile:
- Qinisekisa ukuthi isifo esithile sikhona noma cha: Ngisho noma kukhona izimpawu ezithile, lezi zivivinyo zisiza ukuqinisekisa uhlobo oluqondile lwesifo.
- Yazi ingozi yakho yokuthola isifo esikhathini esizayo: Ezinye izifo, isibonelo, ezinye izinhlobo zomdlavuza, zinethonya lofuzo ekukhuleni kwazo. Ngakho ungathola kusengaphambili ukuthi usengozini yini.
- Funda ngezimo zofuzo ongazidlulisela enganeni yakho: Ngisho noma ungazibonisi izimpawu zezinye izimo zofuzo, ungase ube 'ngumthwali' walesi simo. Lokhu kusho ukuthi ungadlulisela isakhi sofuzo esishintshiwe enganeni yakho.
Uma unesifiso sokuhlolwa kwezakhi zofuzo, kungcono ukukhuluma nodokotela wakho ngakho kuqala. Ngemuva kwalokho unganquma ukuthi uyaludinga ngempela yini lolu vivinyo nokuthi, uma kunjalo, uhlobo luni okufanele uluthathe.
Yiziphi izinhlobo eziyinhloko zokuhlolwa kwe-DNA?
Kunezinhlobo ezahlukene zokuhlolwa kwezakhi zofuzo. Udokotela wakho uzoncoma ukuhlolwa okufanele kakhulu kuwe ngokusekelwe emlandweni womndeni wakho kanye nezimpawu zakho. Ake sibheke izinhlobo eziyinhloko.
| Uhlobo lokuhlola | Ubonani kulokhu? |
|---|---|
| Ukuhlolwa kwezakhi zofuzo | Lokhu kwenziwa ngokubheka izinguquko ku-gene eyodwa noma ngaphezulu ethize. Isibonelo, uma othile emndenini wakho enesifo sofuzo, angahlola ukuthi nawe unayo yini i-gene yaleso sifo. |
| Ukuhlolwa kwe-genomic | Lolu vivinyo oluphelele kakhulu. Esikhundleni sezakhi zofuzo elilodwa noma amabili nje kuphela, lubheka izinguquko enanini elikhulu lezakhi zofuzo ku-DNA yakho ngesikhathi esisodwa. Lusetshenziswa ezimweni zezifo eziyinkimbinkimbi. |
| Ukuhlolwa kwe-Chromosome | Izakhi zofuzo zitholakala kuma-chromosome. Lokhu kuhlolwa akubheki izakhi zofuzo, kodwa kubheka izinguquko kuyo yonke i-chromosome. Kubheka izinto ezifana nokuthi ngabe kukhona yini i-chromosome eyengeziwe, i-chromosome engekho, noma izingcezu eziphukile. |
| Ukuhlolwa kokubonakaliswa kwezakhi zofuzo | Ngaphakathi kwamaseli emizimba yethu, ezinye izakhi zofuzo "ziyasebenza" kanti ezinye "azisebenzi." Lolu vivinyo lubheka ukuthi izakhi zofuzo zisebenza kangakanani. Kwezinye izifo, njengomdlavuza, izakhi zofuzo zibonakala kakhulu (ukuvezwa ngokweqile) noma zingabonakala kahle (ukuvezwa okuncane). |
Zisetshenziselwani lezi zivivinyo zofuzo?
Ukuhlolwa kwezakhi zofuzo kuyithuluzi lezokwelapha eliwusizo kakhulu. Nazi ezinye zezimo lapho kusetshenziswa khona.
Ukuhlolwa kwangaphambi kokubeletha komama abakhulelwe
Ngesikhathi sokukhulelwa, lezi zivivinyo zingabona noma yiziphi izinguquko ezakhiweni zofuzo noma kuma-chromosome omntwana ongakazalwa. Lokhu kungasiza ekunqumeni ingozi yokuba ingane ibe nesifo sofuzo kusenesikhathi.
Ukuhlolwa kokuxilonga
Uma unezimpawu, lokhu kuhlolwa kungasiza ekunqumeni ukuthi zibangelwa yini yisimo sofuzo noma cha.
Ukuhlolwa kwenkampani yenethiwekhi
Kunezifo ezithile zofuzo, futhi noma unezakhi zofuzo ezishintshiwe zaleso sifo emzimbeni wakho, ngeke ubonise izimpawu. Ubizwa ngokuthi "umthwali." Uma bobabili abazali abahlela ukuba nomntwana bengabathwali besifo esifanayo, kunethuba elingama-25% lokuthi ingane izoba nalesi sifo. Ngakho-ke lokhu kuhlolwa kungakutshela ukuthi ungumthwali yini.
Ukuhlolwa kwezinsana
Lapho nje umntwana ezalwa, uyahlolwa ukuze athole izimo ezithile zofuzo kanye nezinye izifo. Lokhu kuvumela ukuthi ukwelashwa kuqale ngokushesha okukhulu uma kukhona isifo.
Ukuhlolwa kokubikezela kanye nokuhlolwa kwangaphambi kwezimpawu
Lezi zivivinyo zingabonisa ukuthi usengozini enkulu yofuzo yokuthola isifo esithile (isib. izinhlobo ezithile zomdlavuza) esikhathini esizayo, noma ngabe awunazo izimpawu njengamanje.
Ukuhlolwa kwe-Pharmacogenomic
Lokhu kuyinto enhle kakhulu. Lokhu kuhlolwa kungakutshela ukuthi imithi ethile izokuthinta kanjani, ukuthi izokusebenzela yini, nokuthi yimuphi umthamo ophephile, ngokusekelwe ku-genetic structure yakho. Lokhu kungasiza udokotela wakho ukuthi akhethe ukwelashwa okukulungele.
Yiziphi izifo ezingatholakala ngokuhlolwa kwezakhi zofuzo?
Kubalulekile ukukhumbula ukuthi ukuhlolwa kofuzo akukwazi ukubona zonke izifo. Futhi, umphumela wokuhlolwa omuhle akusho ukuthi uzoba naleso sifo. Kodwa-ke, ziwusizo kakhulu ekuboneni izifo eziningana. Nazi ezinye izibonelo:
- I-Down syndrome
- I-cystic fibrosis
- Isifo se-sickle cell
- Isifo sikaHuntington
- Eminye imidlavuza ezuzwe njengefa, njengomdlavuza webele nomdlavuza wamathumbu amakhulu
Kwenziwa kanjani lokhu kuhlolwa?
Kuyinqubo elula kakhulu. Udokotela wakho uzothatha isampula yegazi lakho , izinwele, isikhumba, izicubu, noma uketshezi lwe-amniotic kowesifazane okhulelwe . Isampula bese ithunyelwa elebhu. Lapho, ochwepheshe bazohlola izakhi zofuzo zakho, ama-chromosome, noma i-DNA ukuze babone izinguquko, bese bethumela imiphumela kudokotela wakho.
Ingabe zikhona izingozi kulezi zivivinyo?
Ukuhlolwa okuningi kwe-DNA kunezingozi ezincane kakhulu zomzimba. Kulula njengokuthatha igazi elincane. Kodwa-ke, ezinye izivivinyo, ezihilela ukuthatha uketshezi oluvela esibelethweni ngesikhathi sokukhulelwa, zinengozi encane kakhulu yokutheleleka kanye nokuphuphuma kwesisu.
Kodwa-ke, ingozi enkulu ingokwengqondo nangokwezimali .
- Umthelela wengqondo: Uma uthola umphumela ongalindelekile, ungase ube nemizwa efana nentukuthelo, ukwesaba, ukudabuka, nokukhathazeka.
- Izici zezimali: Ukuhlolwa kwezakhi zofuzo kungabiza kakhulu, ngakho-ke kuwumqondo omuhle ukuqaphela lokho ngaphambi kokuhlolwa.
Futhi, khumbula ukuthi lezi zivivinyo zingase zingabi neqiniso eliphelele elingu-100%. Futhi, imiphumela ayikwazi ukubikezela njalo ukuthi izimpawu zizoba zimbi kangakanani noma ukuthi lesi sifo sizoqala nini.
Imiphumela ithini?
Ukuqonda imiphumela yokuhlolwa kwezakhi zofuzo ngezinye izikhathi kungaba nzima. Udokotela wakho uzoqhathanisa imiphumela nomlando wakho wezokwelapha ukuze ayichaze ngokunembile. Kunezinhlobo ezintathu eziyinhloko zemiphumela.
| Umphumela | Incazelo |
| -- ...
| Okuhle | Lokhu kusho ukuthi ilabhorethri ithole ushintsho lwezakhi zofuzo olubangela isifo. Lokhu kungaqinisekisa ukuxilongwa kwakho, kuqinisekise ukuthi ungumthwali walesi sifo, noma kuqinisekise ukuthi usengozini enkulu yokuthola lesi sifo.
| Okubi | Lokhu kusho ukuthi ushintsho lwezakhi zofuzo olubangela isifo alutholakalanga. Lokhu kungavimbela ukuxilongwa, kuqinisekise ukuthi awuyena umthwali walesi sifo, noma kunqume ukuthi awukho engozini enkulu.
| Akukacaci | Lokhu kusho ukuthi noma ngabe ushintsho lwezakhi zofuzo selutholakele, alukho ulwazi olwanele lokunquma ukuthi luyisifo noma luyishintsho oluvamile olungenangozi. Lokhu kungenxa yokuthi sonke sinezinguquko ezincane ku-DNA yethu ezingathinti impilo yethu.
Umlayezo Wokuya Nawe Ekhaya
- Ukuhlolwa kwe-DNA noma izakhi zofuzo kuyindlela yokuhlola ebheka izinguquko kuzakhi zofuzo zethu futhi inikeza ulwazi olubalulekile mayelana nempilo yethu.
- Lokhu kuhlolwa kungaqinisekisa isifo, kuhlonze izingozi zesikhathi esizayo, futhi kunikeze ulwazi mayelana nezimo zofuzo ezingase zidluliselwe ezinganeni.
- Kunezinhlobo eziningana zokuhlolwa kwezakhi zofuzo, futhi kubalulekile ukufuna iseluleko sezokwelapha ukuze ukhethe uhlobo olufanele wena.
- Ukuqonda imiphumela kungaba nzima, ngakho-ke kungakhathaliseki ukuthi umphumela uyini, khuluma nodokotela wakho ngakho kanye nezinyathelo zakho ezilandelayo.
- Qaphela ama-kit aqonde ngqo kumthengi athengiswa ku-inthanethi noma ngezinye izindlela. Ukuhlolwa okwenziwa ngaphansi kwesiqondiso sikadokotela kuthembekile kakhulu.
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