Cishe nawe ekhaya uke watshelwa ukuthi, "Lawa mehlo afana nakamama," "Izinwele zami zifana nezababa," noma "Lolu hlobo lolaka lufana nolukamkhulu." Eqinisweni, sithola izinto eziningi kubazali bethu, njengokubukeka kwethu, ukuphakama, umbala wesikhumba, kanye nokuthungwa kwezinwele. Lokhu sikubiza ngokuthi ifa. Kodwa ubuwazi ukuthi ezinye izifo kanye nezimo zempilo nazo zingazuzwa njengefa kusukela esizukulwaneni kuya kwesinye? Namuhla, ake sixoxe ngokuthi liyini leli fa lezakhi zofuzo nokuthi izifo zidluliselwa kanjani kusukela esizukulwaneni kuya kwesinye.
Okokuqala, ake siqonde le ndaba yefa lezakhi zofuzo.
Ukuze siqonde lokhu, sidinga ukukhuluma ngezinye zezinto eziyisisekelo ngemizimba yethu. Cabanga ngemizimba yethu njengomtapo wolwazi omkhulu.
- Ama-chromosome: Izincwadi ezikulo mtapo wolwazi zibizwa ngokuthi ama-chromosome. Kunezincwadi ezingu-46 zalezi kuzo zonke iseli lomuntu. Kulezi, ezingu-23 zizuzwe njengefa kumama kanti ezinye ezingu-23 zizuzwe njengefa kubaba.
- Izakhi zofuzo: Izakhi zofuzo izindlela zokupheka ezibhalwe ngaphakathi kwalezo zincwadi. Enye iresiphi ikutshela ukuthi uzoba nombala wezinwele onjani, enye ikutshela ukuthi uzoba nombala wamehlo onjani, enye ikutshela ukuthi uzoba nobude obungakanani... Kunezinkulungwane zezindlela zokupheka ezifana nalezi.
- I-DNA: Izinhlamvu ezibhala izindlela zokupheka zibizwa ngokuthi i-DNA. Lezi zinhlamvu ezibizwa ngokuthi i-DNA ziyahlangana ukuze zakhe izakhi zofuzo, futhi izakhi zofuzo ziyahlangana ukuze zakhe ama-chromosome.
Ngakho-ke, njengoba uthola ama-chromosome angu-23 ngalinye kumama wakho nakubaba wakho, uthola amakhophi amabili esakhi sofuzo ngasinye. Elilodwa kumama wakho, elinye kubaba wakho. Lawa ma-gene anquma konke okusemzimbeni wakho.
Manje, lisho ukuthini igama elithi 'Autosomal'? Kuma-chromosome angu-46 emzimbeni wethu, amabili anquma ubulili bethu. Abizwa ngokuthi ama-chromosome ocansi (X no-Y). Ama-chromosome angu-44 asele (amabhangqa angu-22) anezinombolo. I-Autosomal isho ukuthi i-gene ethile itholakala kwenye yala ma-chromosome angu-22 anezinombolo.
Izindlela ezimbili eziyinhloko izifo ezizuzwa ngazo njengefa (i-Autosomal Dominant & Recessive)
Izakhi zofuzo ezishintshiwe ezibangela isifo zidluliselwa kusuka esizukulwaneni kuya kwesinye ngezindlela ezimbili eziyinhloko. Ake sibheke lezi zindlela ezimbili ukuze kube lula ukuziqonda.
| Isici | I-Autosomal Dominant (ifa elinamandla) | I-Autosomal Recessive |
|---|---|---|
| Izakhi zofuzo ezidingekayo ezifweni | Izakhi zofuzo ezihlukile komunye umzali zanele. | Kudingeka izakhi zofuzo ezimbili ezahlukene ezivela kubazali bobabili. |
| Isimo sobuzali | Ngokuvamile, umzali oyedwa unalesi simo (ubonisa izimpawu). | Bobabili abazali bangaba “abathwali” abangenazo izimpawu. Abanaso lesi sifo, kodwa banaso isakhi sofuzo esibangela lesi sifo. |
| Amathuba okuba ingane ithole ifa | Ingane ngayinye inethuba elingu -50% (elilodwa kwababili) . | Ingane ngayinye inethuba elingama -25% (elilodwa kwabane) . |
I-Autosomal Dominant: I-gene eyodwa, amandla engeziwe!
Kalula nje, elithi Dominant lisho 'olawulayo' noma 'oqinile'. Kulesi simiso, i-gene eshintshiwe ebangela lesi sifo inamandla kakhulu. Ngakho-ke, noma ngabe ingane izuza i-gene kumzali oyedwa kuphela, kwanele ukuba ingane ibe nalesi sifo.
Cabanga ngale ndlela: i-gene enempilo ifana nebhakede lopende omhlophe. I-gene eyinhloko ebangela lesi sifo ifana nebhakede lopende obomvu. Manje, uma uhlanganisa lo pende omhlophe nobomvu ndawonye, uzothola umbala opinki. Ungawubona umphumela wombala obomvu. Kunjalo-ke ngalokhu.
Ngakho-ke, uma othile emndenini enesifo i-Autosomal Dominant, sibonakala ngokucacile ezizukulwaneni ngezizukulwane. Uma umama noma ubaba enaso, ingane ngayinye isengozini engu-50%.
Izibonelo zezifo ezizuzwe njengefa ngendlela elawulayo ye-autosomal:
- Isifo sikaHuntington: Isifo lapho amangqamuzana ezinzwa ebuchosheni efa kancane kancane.
- I-Marfan syndrome: Isimo esithinta izicubu zomzimba ezixhumeneyo, okubangela umzimba omude nowomncane, izitho ezinde, kanye neminwe.
- I-Achondroplasia: Imbangela ehamba phambili yokufiphala.
I-Autosomal Recessive: Idinga izakhi zofuzo ezimbili, ingafihlwa!
I-Recessive isho 'ukuthula' noma 'isisekelo'. Kulokhu, i-gene eshintshiwe ebangela lesi sifo ayinamandla kakhulu. Ukuze ibe nomthelela, i-gene kumele izuzwe njengefa kumama nakubaba. Ingane izoqala ukuba nesifo kuphela uma zombili izakhi zofuzo zihlanganisiwe.
Cabanga nje, bobabili abazali baphilile. Kodwa bobabili bangaba "abathwali" balesi sakhi sofuzo esishintshile. Lokho kusho ukuthi banesakhi sofuzo esinempilo kanye nesakhi sofuzo esibangela lesi sifo. Kodwa ngenxa yokuthi isakhi sofuzo esinempilo siyabusa, ababonisi zimpawu. Kufana nokufaka ithonsi lepende eliluhlaza okwesibhakabhaka ebhakedeni lepende elimhlophe. Umbala ngeke ushintshe kakhulu.
Kodwa uma abazali ababili abathwala izingane njengalaba benengane, nakhu okungenzeka:
- Kunethuba elingama-25% lokuthi ingane izothola izakhi zofuzo ezinempilo ezivela kumama nakubaba futhi ibe nempilo ephelele.
- Kunethuba elingu-50% lokuthi ingane izoba nomthwali ongenazimpawu, njengabazali.
- Kunethuba elingama-25% lokuthi ingane izozuza ifa lofuzo olubangela lesi sifo kumama nakubaba futhi ibe nalesi simo.
Ngakho-ke, noma ngabe akekho emndenini onalesi sifo, ingane ingase ivele ibe nesifo ngokuzumayo. Lokhu kungenxa yokuthi abazali bangabathwali besifo ngokungazi.
Izibonelo zezifo ezizuzwe njengefa ngendlela yokubuyisa i-autosomal:
- I-Cystic fibrosis: Isifo esithinta amaphaphu kanye nohlelo lokugaya ukudla ngenxa yokuqina kwe-mucus (uketshezi olufana ne-mucus) emzimbeni.
- Isifo se-Sickle cell: Isifo sokuntuleka kwegazi esibangelwa ukushintsha kwesimo samaseli abomvu egazi.
- Isifo sikaTay-Sachs: Isifo esibulalayo esibhubhisa amangqamuzana ezinzwa ebuchosheni nasemgogodleni.
Kwenzeka kanjani ukuguquka kwezakhi zofuzo?
Ngezinye izikhathi, lapho amangqamuzana ethu ehlukana, kwenzeka amaphutha amancane ekukopishweni kwe-DNA. Kufana nencwadi ehambahambayo lapho kukopishwa incwadi. Lokhu sikubiza ngokuthi ukuguquka kwezakhi zofuzo. Lokhu akukubi ngaso sonke isikhathi, futhi okunye akunawo nhlobo umphumela. Kodwa okunye ukuguquka kwezakhi zofuzo kungashintsha indlela i-gene esebenza ngayo futhi kubangele izifo.
Kunezinhlobo eziningana eziyinhloko zokukhubazeka:
- Ukufaka esikhundleni: Ukufaka esikhundleni sencwadi eyodwa kukhodi ye-DNA ngolunye.
- Ukufakwa: Ukwengezwa kohlamvu olwengeziwe kukhodi ye-DNA.
- Ukususwa: Ukususwa kwencwadi kukhodi ye-DNA.
Ngisho nalolu shintsho oluncane lungashintsha ngokuphelele ukusebenza kweprotheni ekhiqizwa yi-gene futhi lubangele izifo.
Yini okufanele uyenze uma unokungabaza ngalokhu?
Uma othile emndenini wakho enesifo esihambisana nofuzo, noma uma ningumbhangqwana ohlela ukuba nomntwana futhi nizizwa nisengozini, into engcono kakhulu ongayenza ukukhuluma nodokotela wakho ngaso.
Kulezi zinsuku, kunezinsizakalo ezifana nokuhlolwa kwezakhi zofuzo kanye nokwelulekwa kwezakhi zofuzo.
- Ukuhlolwa kofuzo:Lokhu kungabona noma yiziphi izinguquko ezakhiweni zakho zofuzo, kuma-chromosome, noma kumaphrotheni. Lokhu kuhlolwa kusiza ekunqumeni ukuthi unezakhi zofuzo eziguqukile ezibangela isifo, noma ukuthi ungumthwali waso.
- Ukwelulekwa ngofuzo: Umeluleki ngofuzo angakusiza ukuthi uqonde le miphumela yokuhlolwa, ukhulume ngezingozi emndenini wakho, futhi uhlele ikusasa.
Into ebaluleke kakhulu ukungesabi ukwenza izinqumo ngokwakho, kodwa ukufuna iseluleko kudokotela noma kuchwepheshe ofanelekayo. Bazokunikeza isiqondiso esifanele.
Singakwazi yini ukugcina impilo ye-DNA yethu?
Nakuba singenakukwazi ukushintsha izakhi zofuzo esizizuza kubazali bethu, kunezinto eziningana esingazenza ukuze sinciphise umonakalo kwi-DNA yethu kukho konke ukuphila kwethu futhi silondoloze impilo yayo.
- Yidla ukudla okunomsoco. Ukudla okunomsoco kusiza ukugcina amangqamuzana ethu ephilile.
- Vivinya umzimba njalo. Ukuzivocavoca kuthuthukisa impilo yomzimba wonke.
- Gwema ukubhema ngokuphelele. Amakhemikhali akugwayi angalimaza i-DNA ngokuqondile.
- Nciphisa ukusetshenziswa kotshwala. Ukuphuza utshwala ngokweqile nakho kuyingozi kumaseli.
- Funa ukuhlolwa kwezokwelapha kanye neseluleko ngesikhathi esifanele. Kubaluleke kakhulu ukuhlonza noma iyiphi inkinga kusenesikhathi.
Lezi zinto zingagcina impilo yethu iyonke isesimweni esihle.
Umlayezo Wokuya Nawe Ekhaya
- Njengokubukeka kwethu, sithola nezinye izifo ezivela kubazali bethu ngokusebenzisa izakhi zofuzo.
- Esimweni esiyinhloko se-autosomal , i-gene eyodwa eshintshiwe evela kumzali oyedwa yanele ukubangela lesi sifo. Ingane inethuba elingu-50% lokuthola lesi sifo njengefa.
- Esimweni sokuvuvukala kwe-autosomal , lesi sifo sidinga ifa le-gene eshintshiwe evela kubazali bobabili. Abazali bangaba ngabathwali abangakhombisi zimpawu. Amathuba okuba ingane ithole lesi sifo njengefa angama-25%.
- Uma unenkinga ngomlando womndeni wakho wezifo zofuzo noma ingozi yokuzidlulisela enganeni, into engcono kakhulu ongayenza ukungesabi futhi ukhulume nodokotela wakho .
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