Sonke sizuza izinto kubazali bethu, akunjalo? Izinto ezifana nombala wesikhumba, ukuthungwa kwezinwele, umbala wamehlo. Lezi yizinto esizithola ezizalweni zabazali bethu. Kodwa kanye nalezi zinto ezinhle, ezinye izifo zingazuzwa nasezizukulwaneni zethu. Simane sizibiza ngokuthi izifo ezinjalo eziza ngezakhi zofuzo ngokuthi 'Izinkinga Zofuzo'. Kubaluleke kakhulu ukwazi ngalokhu, ngoba kuzosisiza senze izinqumo ngathi kanye nekusasa lezingane zethu.
Iyini ngempela inkinga yofuzo?
Ukuze siqonde lokhu, ake siqale sixoxe kancane ngezakhi zofuzo kanye ne-DNA. Cabanga ukuthi umzimba wethu uyisakhiwo esikhulu. Kukhona uhlaka oluphelele lokwakha leso sakhiwo, incwadi enkulu equkethe yonke imininingwane emincane. Ngokufanayo, ngaphakathi kweseli ngalinye emzimbeni wethu, kunesethi yemiyalelo equkethe ulwazi mayelana nokuthi lelo seli kufanele lisebenze kanjani, ukuthi sibukeka kanjani, nazo zonke izici zethu. Leli sethi yemiyalelo yilokho esikubiza ngokuthi i-DNA (i-Deoxyribonucleic acid) .
Sibiza 'izakhi zofuzo' ngokuthi izingxenye zalolu chungechunge olude lwe-DNA ezinikeza imiyalelo ethile. Isibonelo, kukhona isakhi sofuzo esinquma umbala wamehlo akho, isakhi sofuzo esinquma ukuthungwa kwezinwele zakho, njll.
Manje, kwenzekani uma kukhona ushintsho, umonakalo, noma iphutha emiyalweni kulezi zakhi zofuzo? Bese kuthinta ukusebenza okuvamile komzimba. Ushintsho olunjalo oluyingozi ku-gene lubizwa ngokuthi ukuguqulwa . Sibiza izifo ezibangelwa ukuguqulwa okunjalo noma ushintsho ngobukhulu bezakhiwo (ama-chromosome) aqukethe izakhi zofuzo zethu ngokuthi 'izifo zofuzo'.
Sithola ingxenye yezakhi zofuzo zethu kumama wethu kanti enye ingxenye kubaba wethu. Ngakho-ke singazuza isici sofuzo kumama wethu noma kubaba wethu, noma kubo bobabili.
Yiziphi izinhlobo eziyinhloko zezifo zofuzo?
Izifo zofuzo zingahlukaniswa zibe izinhlobo ezintathu eziyinhloko. Lezi zigaba zisekelwe endleleni ezenzeka ngayo.
| Uhlobo lwesifo | Incazelo elula |
|---|---|
| Izinkinga ze-Chromosomal | Izakhi zofuzo zethu (i-DNA) zihlanganiswe ezakhiweni ezibizwa ngama-chromosome. Lezi zifo zibangelwa ukwanda noma ukwehla kwenani lama-chromosome emaseli, noma ukwanda noma ukwehla kwengxenye ye-chromosome. |
| Izinkinga Eziyinkimbinkimbi / Eziningi | Lokhu kubangelwa inhlanganisela yokuguquka kwezakhi zofuzo okukodwa noma ngaphezulu kanye nendlela yethu yokuphila kanye nezici zemvelo (ukudla, ukuvivinya umzimba, ukubhema, amakhemikhali). |
| Izifo ezibangelwa ukukhubazeka kwezakhi zofuzo olulodwa (Izakhi zofuzo olulodwa / Izinkinga zeMonogenic) | Lezi zifo zibangelwa ukuguquka kwezakhi zofuzo olulodwa. Zingabonakala zidluliselwa ezizukulwaneni ngezizukulwane ngendlela ecacile. |
Yiziphi izifo ezivame kakhulu zofuzo?
Kunezinkulungwane zezifo ezibangelwa izakhi zofuzo. Ezinye zivamile kakhulu, ezinye azivamile. Ake sibheke ezinye zezifo ezivame kakhulu eziwela ezigabeni ezintathu esixoxe ngazo ngaphambili.
| Uhlobo lwesifo | Izibonelo |
|---|---|
| Izinkinga ze-Chromosomal | |
| I-Down syndrome (i-Down syndrome - i-Trisomy 21) | Isifo se-Fragile X |
| Isifo se-Klinefelter | I-Turner syndrome |
| I-Trisomy 18 kanye ne-Trisomy 13 | I-Triple-X syndrome |
| Izinkinga Eziningi Zezici | |
| Isifo sikashukela | Isifo semithambo ye-coronary |
| Umdlavuza (izinhlobo eziningi) | Isifo samathambo |
| Isifo se-Autism spectrum (esivame kakhulu) | Ikhanda elibuhlungu le-migraine |
| Izinkinga zeMonogenic | |
| I-cystic fibrosis | Isifo se-sickle cell |
| I-Duchenne muscular dystrophy | Isifo sikaTay-Sachs |
| I-Hemochromatosis (ukwanda kwensimbi emzimbeni) | I-hypercholesterolemia yomndeni |
Yiziphi izimbangela zezifo zofuzo?
Njengoba sixoxile ngaphambili, imbangela eyinhloko ukuguquka kwezakhi zofuzo. Ake sikuqonde lokhu kalula.
Izakhi zofuzo zethu zifana nesethi yemiyalelo yokwenza amaprotheni imizimba yethu iwadinga. Lawa maprotheni alawula cishe yonke inqubo emizimbeni yethu. Uma izakhi zofuzo zinezinguquko, le miyalelo ayisebenzi kahle. Khona-ke izinto ezimbili zingenzeka:
1. Noma ngabe amaprotheni adingekayo awakhiqizwa nhlobo.
2. Noma kukhona iphutha kumaprotheni akhiqizwayo, ngakho awasebenzi kahle.
Zombili lezi zinto ziphazamisa izinqubo ezijwayelekile zomzimba futhi zibangele izifo. Ezinye izinguquko zizuzwa njengefa kusukela esizukulwaneni kuya kwesinye. Kodwa ngezinye izikhathi, ngaphandle komlando womndeni, umuntu angakha uguquko olusha lwezakhi zofuzo ngesikhathi sokuphila kwakhe. Kunezici eziningana zemvelo (ama-mutagen) ezithinta lokhu.
- Ukuchayeka kumakhemikhali: Izinto ezifana nezinye izibulala-zinambuzane namakhemikhali akhishwa ezimbonini.
- Ukuchayeka emisebeni: Ukuchayeka kakhulu emisebeni efana ne-X-ray.
- Ukubhema: Amakhemikhali akugwayi angalimaza i-DNA.
- Imisebe ye-ultraviolet eyingozi evela elangeni (ukuchayeka ku-UV): Lokhu kungabangela izimo ezifana nomdlavuza wesikhumba.
Ziyini izimpawu zalezi zifo?
Izimpawu zesifo sofuzo ziyahlukahluka kakhulu. Ziya ngokuthi yisiphi isakhi sofuzo esithintekile, iyiphi ingxenye yomzimba ethintekile, kanye nobunzima besifo. Ezinye izimpawu ziyabonakala ekuzalweni. Ezinye zingase zivele ebuntwaneni, ebusheni, noma ngisho nasebudaleni.
Lezi ezinye zezimpawu ezivamile:
- Izinguquko zokuziphatha noma izinkinga.
- Ubunzima bokuphefumula.
- Ukuntuleka kokuqonda, njengokungakwazi kobuchopho ukucubungula ulwazi ngendlela efanele.
- Izinkinga zokukhula, njengokulibaziseka ekukhulumeni noma amakhono okuxhumana nabantu.
- Ubunzima bokugwinya ukudla noma ukungakwazi ukumunca izakhamzimba ngendlela efanele.
- Noma yikuphi ukukhubazeka ezithweni noma ebusweni, njengokungabikho kweminwe noma udebe nomlomo oqhekekile.
- Ubunzima bokunyakaza ngenxa yokuqina kwemisipha noma ubuthakathaka.
- Izinkinga zemizwa ezifana nokuquleka noma isifo sohlangothi.
- Ukukhula komzimba okunciphile noma ukufushane komzimba.
- Ukukhubazeka kokubona noma ukuzwa.
Uthola kanjani ukuthi unesifo esibangelwa ufuzo?
Uma othile emndenini wakho enesifo sofuzo futhi usola ukuthi unaso, kungcono ukubona udokotela bese ucela ukwelulekwa ngofuzo . Ukuhlolwa kofuzo kuvame ukuqinisekisa ukuthi une-mutation yofuzo ehlobene nesifo esithile.
Into ebalulekile ukuthi ngoba nje umuntu une-genetic mutation yesifo esithile, akusho ukuthi wonke umuntu uzoba naleso sifo. Umeluleki wezakhi zofuzo angachaza ubungozi bakho nokuthi yini ongayenza ukuze uzivikele.
Kunezivivinyo eziningana ezingenziwa ngumuntu oqala umndeni, noma umama okhulelwe.
Ukuhlolwa kwenkampani yenethiwekhi
Lokhu ukuhlolwa kwegazi. Kunganquma ukuthi wena noma umlingani wakho ninezakhi zofuzo ezinephutha zesifo sofuzo ngaphandle kokubonisa izimpawu (ningabathwali baso). Lokhu kuhlolwa kuyindlela enhle kunoma ubani ohlela ukuba nomntwana, noma ngabe akukho mlando womndeni walesi sifo.
Ukuhlolwa Kwangaphambi Kokubeletha
Lokhu kuhlolwa kunganquma ingozi yokuthi umntwana osesibelethweni abe nesifo esivamile se-chromosome njenge-Down syndrome ngokuhlola isampula yegazi elithathwe kumama okhulelwe.
Ukuhlolwa kokuxilonga ngaphambi kokubeletha
Lokhu kungasiza ekunqumeni ngokunembile ukuthi ingane inesifo sofuzo. Ngenxa yalokhu, kuthathwa inani elincane le-amniotic fluid bese lihlolwa. Lokhu kuhlolwa kubizwa ngokuthi i-amniocentesis .
Ukuhlolwa kwezinsana
Lokhu kuhlolwa kwenziwa ngesampula encane yegazi ethathwe esithendeni sengane ngayinye esanda kuzalwa. Kwenziwa njalo nasezibhedlela zaseSri Lanka. Lokhu kuvumela ukutholakala kusenesikhathi kwezinye izifo zofuzo ezingelapheka futhi kuvumela ingane ukuthi ithole ukwelashwa okudingekayo ngokushesha okukhulu.
Yiziphi izindlela zokwelapha izifo zofuzo?
Yilokhu sonke esifuna ukukwazi. Kodwa iqiniso liwukuthi, izifo eziningi zofuzo azikwazi ukwelapheka ngokuphelele. Kodwa, ungakhathazeki. Nakuba lesi sifo singelapheka ngokuphelele, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu, ukuvimbela lesi sifo ukuba singabi sibi kakhulu, futhi kwenze impilo ibe lula.
Uhlobo lokwelashwa oludingayo luzoncika ohlotsheni kanye nobunzima besimo.
- Ukwelashwa ngamakhemikhali , njengemithi yokulawula izimpawu noma ukulawula ukukhula kwamaseli okungajwayelekile ezimweni ezifana nomdlavuza.
- Ukwelulekwa ngokudla okunempilo noma izithako zokudla ukusiza umzimba wakho uthole ukudla okunomsoco okudingayo.
- Ukwelashwa ngokomzimba, ukwelashwa ngokomsebenzi, noma ukwelashwa ngenkulumo kungadingeka ukuze kulondolozwe amakhono afanele.
- Ukumpontshelwa igazi ukuze kubuyiselwe amazinga aphilile amangqamuzana egazi.
- Ukuhlinzwa ukulungisa izakhiwo ezingavamile noma ukwelapha izinkinga.
- Ukwelashwa okukhethekile njengokwelashwa ngemisebe yomdlavuza.
- Ukufakelwa isitho : Ukufaka isitho esingasebenzi kahle esikhundleni sesitho esiphilile.
Linjani ikusasa lomuntu ophila nalolu hlobo lwesifo?
Kunzima ukunikeza impendulo eyodwa kulo mbuzo, ngoba uyahlukahluka kakhulu kuye ngesifo. Ingane enezifo ezingavamile kakhulu nezinzima zokuzalwa, njenge-anencephaly, ingaphila izinsuku ezimbalwa kuphela.
Kodwa isimo esifana nomlomo oqhekekile awuthinti isikhathi sokuphila. Kodwa-ke, bangase badinge ukwelashwa okuvamile nokunakekelwa okukhethekile ukuze baphile impilo evamile. Into ebalulekile ukuthi, ngeseluleko nokuphathwa okufanele kwezokwelapha, abantu abaningi abanezifo zofuzo bangaphila impilo enenjongo nenhle.
Ingabe isifo sofuzo singavinjelwa?
Zimbalwa kakhulu izinto esingazenza ukuvimbela izifo zofuzo, ngoba ziku-DNA yethu. Kodwa-ke, ngokwelulekwa nokuhlolwa kofuzo, ungafunda ngengozi yakho. Ungathola futhi ukuthi kungenzeka kangakanani ukuthi izingane zakho zizuze izifo ezithile. Lolu lwazi lungakusiza ukuthi wenze izinqumo ezibalulekile, njengokuhlela umndeni.
Umlayezo Wokuya Nawe Ekhaya
- Izifo zofuzo yizimo ezibangelwa ukukhubazeka kwezakhi zofuzo noma ama-chromosome ethu.
- Ezinye zalezi ziyabonakala lapho zizalwa, kanti ezinye zingase zivele ngokuhamba kwesikhathi.
- Uma othile emndenini wakho enesifo sofuzo, kubaluleke kakhulu ukukhuluma nodokotela wakho futhi ufunde ngokwelulekwa ngofuzo ngaphambi kokuqala umndeni.
- Nakuba izifo eziningi zingelapheki ngokuphelele, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu nasekuphileni impilo engcono.
- Uma uphila nesimo esinjengalesi, kubaluleke kakhulu ukuqhubeka nokufuna ukwelashwa kuchwepheshe kanye nokufuna usizo emaqenjini okusekela.
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