Sonke sizuza izinto kubazali bethu, akunjalo? Izinto ezifana nombala wolusu, ubume beenwele, umbala wamehlo. Ezi zizinto esizifumana kwizakhi zofuzo zabazali bethu. Kodwa kunye nezi zinto zilungileyo, ezinye izifo zinokuzuzwa kwinzala yethu. Sizibiza nje ngokuba zizifo eziza ngezakhi zofuzo ngokuthi 'Iingxaki zoFuzo'. Kubaluleke kakhulu ukwazi ngale nto, kuba iya kusinceda senze izigqibo ngathi nangekamva labantwana bethu.
Yintoni kanye kanye ingxaki yemfuza?
Ukuze siqonde oku, masiqale sithethe kancinci ngee-genes kunye ne-DNA. Khawucinge ukuba umzimba wethu sisakhiwo esikhulu. Kukho isicwangciso esipheleleyo sokwakha eso sakhiwo, incwadi enkulu equka zonke iinkcukacha ezincinci. Ngokufanayo, ngaphakathi kwiseli nganye emzimbeni wethu, kukho iseti yemiyalelo equlethe ulwazi malunga nendlela emele isebenze ngayo loo seli, indlela esijongeka ngayo, kunye nazo zonke iimpawu zethu. Le seti yemiyalelo yileyo siyibiza ngokuba yi-DNA (i-Deoxyribonucleic acid) .
Sibiza 'iigene' ngokuba ziindawo zale ntambo inde ye-DNA ezinika imiyalelo ethile. Umzekelo, kukho igene emisela umbala wamehlo akho, igene emisela ubume beenwele zakho, njl.
Ngoku, kwenzeka ntoni ukuba kukho utshintsho, umonakalo, okanye impazamo kwimiyalelo kwezi gene? Emva koko ichaphazela ukusebenza okuqhelekileyo komzimba. Utshintsho olunjalo oluyingozi kwigene lubizwa ngokuba yi-mutation . Sibiza izifo ezibangelwa yi-mutation enjalo okanye ngotshintsho kubukhulu bezakhiwo (ii-chromosomes) eziqulethe ii-genes zethu ngokuthi 'izifo ze-genetic'.
Sifumana isiqingatha sezakhi zofuzo zethu kumama wethu kwaye esinye isiqingatha sifumana kubaba wethu. Ngoko ke singazuza isiphene sezakhi zofuzo kumama wethu okanye kubaba wethu, okanye kubo bobabini.
Ziziphi iintlobo eziphambili zezifo zemfuza?
Izifo zemfuza zinokwahlulwa zibe ziintlobo ezintathu eziphambili. Olu hlobo lusekelwe kwindlela ezenzeka ngayo.
| Uhlobo lwesifo | Ingcaciso elula |
|---|---|
| Iingxaki zeChromosomal | Iijini zethu (i-DNA) zipakishwe kwizakhiwo ezibizwa ngokuba zii-chromosomes. Ezi zifo zibangelwa kukwanda okanye ukuncipha kwenani lee-chromosomes kwiiseli, okanye kukwanda okanye ukuncipha kwenxalenye ye-chromosome. |
| Iingxaki Ezintsonkothileyo / Ezininzi | Ezi zibangelwa kukudibana kotshintsho olunye okanye ngaphezulu kwizakhi zofuzo kunye nendlela esiphila ngayo kunye nezinto ezisingqongileyo (ukutya, umthambo, ukutshaya, iikhemikhali). |
| Izifo ezibangelwa ziziphene kwijini enye (Iingxaki zejini enye / iMonogenic) | Ezi zifo zibangelwa kukuguquka kwezakhi zofuzo esinye. Zinokubonwa ukuba zidluliselwa kwizizukulwana ngezizukulwana ngendlela ecacileyo. |
Zeziphi izifo zemfuza ezixhaphakileyo?
Kukho amawaka ezifo zemfuza. Ezinye zixhaphakile kakhulu, ezinye azixhaphakanga. Makhe sijonge ezinye zezifo eziqhelekileyo eziwela kwiindidi ezintathu esixoxe ngazo ngaphambili.
| Uhlobo lwesifo | Imizekelo |
|---|---|
| Iingxaki zeChromosomal | |
| I-Down syndrome (i-Down syndrome - iTrisomy 21) | Isifo seFragile X |
| Isifo seKlinefelter | I-Turner syndrome |
| ITrisomy 18 kunye neTrisomy 13 | Isifo se-Triple-X |
| Iingxaki ze-Multifactorial | |
| Isifo seswekile | Isifo semithambo yentliziyo |
| Umhlaza (iintlobo ezininzi) | Isifo samathambo |
| Isifo se-Autism spectrum (esixhaphakileyo) | Intloko ebuhlungu ye-Migraine |
| Iingxaki zeMonogenic | |
| Icystic fibrosis | Isifo seSickle cell |
| I-Duchenne muscular dystrophy | Isifo sikaTay-Sachs |
| I-Hemochromatosis (ukwanda kwesinyithi emzimbeni) | I-hypercholesterolemia yosapho |
Zithini izizathu zezifo zemfuza?
Njengoko besitshilo ngaphambili, unobangela oyintloko kukuguquka kwezakhi zofuzo. Masiyiqonde le nto ngokulula.
Izakhi zofuzo zethu zifana neseti yemiyalelo yokwenza iiproteni ezifunwa yimizimba yethu. Ezi proteni zilawula phantse yonke inkqubo emizimbeni yethu. Xa i-gene inenguqu, le miyalelo ayisebenzi kakuhle. Emva koko izinto ezimbini zinokwenzeka:
1. Nokuba iiproteni ezifunekayo aziveliswanga konke konke.
2. Okanye kukho isiphene kwiiproteni eziveliswayo, ngoko ke azisebenzi kakuhle.
Zombini ezi zinto ziphazamisa iinkqubo eziqhelekileyo zomzimba kwaye zibangela izifo. Ezinye iinguqu zifunyanwa zizizukulwana ngezizukulwana. Kodwa ngamanye amaxesha, ngaphandle kwembali yosapho, umntu unokuphuhlisa utshintsho olutsha lwezakhi zofuzo ngexesha lobomi bakhe. Kukho izinto ezininzi ezingqongileyo (ii-mutagens) ezichaphazela oku.
- Ukuchatshazelwa ziikhemikhali: Izinto ezifana nezinye izibulali-zinambuzane kunye neekhemikhali ezikhutshwa kwiifektri.
- Ukuvezwa kwimitha: Ukuvezwa kakhulu kwimitha efana ne-X-ray.
- Ukutshaya: Iikhemikhali ezikwicuba zingonakalisa i-DNA.
- Imitha ye-ultraviolet eyingozi evela elangeni (ukuvezwa yi-UV): Ezi zinokubangela izifo ezifana nomhlaza wesikhumba.
Zithini iimpawu zezi zifo?
Iimpawu zesifo semfuza zahlukile kakhulu. Zixhomekeke ekubeni yeyiphi i-gene echaphazelekileyo, leliphi ilungu lomzimba elichaphazelekileyo, kunye nobunzima besifo. Ezinye iimpawu zibonakala ekuzalweni. Ezinye zinokubonakala ebuntwaneni, ebusheni, okanye nasebudaleni.
Nazi ezinye zeempawu eziqhelekileyo:
- Utshintsho kwindlela yokuziphatha okanye iingxaki.
- Ubunzima bokuphefumla.
- Iingxaki zokuqonda, ezifana nokungakwazi kwengqondo ukucubungula ulwazi ngokuchanekileyo.
- Iingxaki zophuhliso, ezifana nokulibaziseka ekuthetheni okanye kwizakhono zentlalo.
- Ubunzima bokuginya ukutya okanye ukungakwazi ukufunxa izondlo ngendlela efanelekileyo.
- Naziphi na iingxaki ezikwimilenze okanye ebusweni, ezifana nokungabikho kweminwe okanye umlomo nentamo evulekileyo.
- Ubunzima bokuhamba ngenxa yokuqina kwemisipha okanye ubuthathaka.
- Iingxaki ze-neurological ezifana nokuxhuzula okanye i-stroke.
- Ukukhula komzimba okunciphileyo okanye ukuba mfutshane.
- Ukuphazamiseka kokubona okanye ukuva.
Ufumanisa njani ukuba unesifo esibangelwa lufuzo?
Ukuba kukho umntu kusapho lwakho onesifo semfuza kwaye ukrokrela ukuba unaso, kungcono ukubona ugqirha kwaye ufumane ingcebiso ngemfuza . Uvavanyo lwemfuza lunokuqinisekisa ukuba unayo na inguqu yemfuza enxulumene nesifo esithile.
Into ebalulekileyo kukuba ngenxa yokuba umntu ene-genetic mutation yesifo esithile, akuthethi ukuba wonke umntu uza kuba neso sifo. Umcebisi ngezemfuza unokuchaza umngcipheko wakho kunye nento onokuyenza ukuze uzikhusele.
Kukho iimvavanyo ezininzi ezinokwenziwa ngumntu oqala usapho, okanye umama okhulelweyo.
Uvavanyo lomthwali
Olu luvavanyo lwegazi. Lunokuqinisekisa ukuba wena okanye iqabane lakho nine-gene enesiphene yesifo semfuza ngaphandle kokubonisa zimpawu (ngabathwali baso). Olu vavanyo lukhetho oluhle kuye nabani na oceba ukuba nomntwana, nokuba akukho mbali yentsapho yesi sifo.
Ukuhlolwa kwangaphambi kokuzalwa
Olu vavanyo lunokumisela umngcipheko wokuba umntwana osesibelekweni abe nesifo esiqhelekileyo se-chromosome njenge-Down syndrome ngokuhlola isampuli yegazi ethathwe kumama okhulelweyo.
Uvavanyo lokuxilongwa ngaphambi kokuzalwa
Oku kunokunceda ekuqinisekiseni ngokuchanekileyo ukuba umntwana unesifo semfuza. Ngenxa yoku, kuthathwa ulwelo oluncinci lwe-amniotic fluid luze luvavanywe. Olu vavanyo lubizwa ngokuba yi -amniocentesis .
Ukuhlolwa kweentsana ezisandul' ukuzalwa
Olu vavanyo lwenziwa kwisampulu yegazi elincinci elithathwe esithendeni somntwana ngamnye osandul’ ukuzalwa. Lukwaqhutywa rhoqo kwizibhedlele zaseSri Lanka. Oku kuvumela ukubonwa kwangoko kwezinye izifo zemfuza ezinokunyangwa kwaye kuvumela umntwana ukuba afumane unyango olufunekayo ngokukhawuleza.
Zithini iindlela zonyango lwezifo zemfuza?
Yile nto sonke esifuna ukuyazi. Kodwa inyaniso kukuba, uninzi lwezifo zemfuza azinakuphiliswa ngokupheleleyo. Kodwa, ungakhathazeki. Nangona isifo singenakuphiliswa ngokupheleleyo, kukho unyango oluninzi olunokunceda ukulawula iimpawu, ukuthintela isifo ukuba singabi mandundu, kwaye kwenze ubomi bube lula.
Uhlobo lonyango olufunekayo luya kuxhomekeka kuhlobo kunye nobunzima bemeko.
- Unyango lwe-chemotherapy , olufana namayeza okulawula iimpawu okanye ukulawula ukukhula okungaqhelekanga kweeseli kwiimeko ezifana nomhlaza.
- Ingcebiso ngesondlo okanye izongezo zokutya ukunceda umzimba wakho ufumane izondlo ozifunayo.
- Unyango lomzimba, unyango lomsebenzi, okanye unyango lokuthetha lunokufuneka ukuze kugcinwe ubuchule obuphezulu.
- Utofelo-gazi ukubuyisela amanqanaba eeseli zegazi asempilweni.
- Utyando lokulungisa izakhiwo ezingaqhelekanga okanye ukunyanga iingxaki.
- Unyango olukhethekileyo olufana nonyango lwemitha yomhlaza.
- Ukufakelwa amalungu omzimba : Ukutshintsha amalungu angasebenzi kakuhle ngelungu eliphilileyo.
Linjani ikamva lomntu ophila nolu hlobo lwesifo?
Kunzima ukunika impendulo enye kulo mbuzo, kuba uyahluka kakhulu ngokwesifo nesifo. Umntwana onezifo ezingaqhelekanga nezinzima zokuzalwa, ezifana ne-anencephaly, unokuphila iintsuku ezimbalwa kuphela.
Kodwa imeko efana nomlebe oqhekekileyo ayichaphazeli ixesha lokuphila. Nangona kunjalo, basenokufuna unyango oluqhelekileyo kunye nokhathalelo olukhethekileyo ukuze baphile ubomi obuqhelekileyo. Into ebalulekileyo kukuba, ngeengcebiso zonyango ezifanelekileyo kunye nolawulo, abantu abaninzi abanezifo zemfuza banokuphila ubomi obunenjongo nobulungileyo.
Ngaba isifo sofuzo singathintelwa?
Zimbalwa kakhulu izinto esinokuzenza ukuthintela izifo zemfuza, kuba zikwi-DNA yethu. Nangona kunjalo, ngokusebenzisa iingcebiso kunye novavanyo lwemfuza, ungafunda ngomngcipheko wakho. Ungafumanisa nokuba kunokwenzeka kangakanani ukuba abantwana bakho bafumane izifo ezithile. Olu lwazi lunokukunceda wenze izigqibo ezibalulekileyo, ezifana nokucwangcisa usapho.
Umyalezo Wokuya Ekhaya
- Izifo zemfuza ziimeko ezibangelwa ziziphene kwiijini zethu okanye kwiikromosomu.
- Ezinye zezi ziyabonakala xa zizalwa, ngelixa ezinye zinokubonakala ngokuhamba kwexesha.
- Ukuba kukho umntu kusapho lwakho onesifo semfuza, kubaluleke kakhulu ukuthetha nogqirha wakho uze ufunde ngeengcebiso zemfuza ngaphambi kokuba uqalise usapho.
- Nangona izifo ezininzi zingenakunyangwa ngokupheleleyo, kukho unyango oluninzi olunokunceda ukulawula iimpawu kunye nokuphila ubomi obungcono.
- Xa uphila nemeko efana nale, kubaluleke kakhulu ukuqhubeka ufuna unyango kwingcali kwaye ucele uncedo kumaqela enkxaso.
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