Mienzaniso yeMibvunzo Inotsanangura Nezvekuchinja Kwemuviri uye Zvirwere Zvenhaka
Kuchinja kwemajini nezvirwere zvakagarwa nhaka inyaya mbiri dzakakosha, dzakabatana mumajini. Dzose dzinopa ruzivo rwekuti nhaka yemajini inogona sei kukanganisa hutano hwevanhu nevanhu vose. Munyaya ino, tichakurukura mienzaniso yakati wandei yematambudziko anotarisana nekuchinja kwemajini nezvirwere zvakagarwa nhaka, pamwe chete nemhinduro dzazvo, kuti tinzwisise zvakadzama nyaya idzi.
Kuchinja kwemajini
Kuchinja-chinja kweDNA kunogona kuitika mumhando dzakasiyana-siyana, kubva pakuchinja kwese kwese kwe nucleotide base (point mutation) kusvika pakubviswa kana kuiswa kwezvikamu zvirefu zveDNA. Kuchinja-chinja kweDNA kunogona kuitika kamwe chete kana kukonzerwa nezvinhu zvekunze zvakaita semwaranzi kana makemikari. Pazasi pane mimwe mienzaniso yematambudziko anoratidza mhando dzekuchinja-chinja kweDNA nemigumisiro yadzo.
Muenzaniso Mubvunzo 1: Kuchinja Kwemapoinzi
Mubvunzo: Tsanangura mhedzisiro yekuchinja kwemajini mumajini ayo anogadzira ma enzymes akakosha pakugadzirwa kwemuviri.
Kukurukurirana:
Kuchinja kwemapoinzi kuchinja kwechinhu chimwe chete muDNA. Kana kuchinja uku kukaitika munzvimbo yekodhi yejini, kunogona kutsiva amino acid imwe neimwe muprotein inobuda, inozivikanwa se missense mutation. Kana enzyme inobuda iine chimiro kana basa rakasiyana, izvi zvinogona kukanganisa mashandiro emetabolism anoenderana neenzyme iyoyo.
Muenzaniso unozivikanwa wekuchinja kwemasero eropa (missense mutation) ndiko kuchinja kunokonzera sickle cell anemia. Muchiitiko ichi, base imwe chete mujini re beta-globin inochinjwa, ichitsiva amino acid glutamate ne valine panzvimbo yechitanhatu ye polypeptide chain. Kuchinja uku kunoita kuti hemoglobin iungane, zvichiita kuti masero matsvuku eropa aite sickles, uye zvichikonzera matambudziko akasiyana-siyana ehutano.
Zvirwere Zvenhaka
Zvirwere zvenhaka zvinokonzerwa nekuchinja kwemajini kunogona kutapurirwa kubva kuvabereki kuenda kuvana. Zvirwere izvi zvinowanzoiswa muzvikamu zvichienderana nemaitiro azvo enhaka, zvakaita se autosomal dominant, autosomal recessive, X-linked, nezvimwewo. Muenzaniso wedambudziko unoratidza kugara nhaka kwezvirwere zvemajini.
Muenzaniso Mubvunzo 2: Autosomal Dominant
Mubvunzo: Kana munhu ane chirwere cheHuntington (Hh) akaroora munhu ane hutano hwakanaka (hh), tsvaga mukana wekuti mwana wake achava nechirwere ichi.
Kukurukurirana:
Chirwere cheHuntington muenzaniso wechirwere chinotonga muviri chinonzi autosomal dominant disorder umo allele imwe chete (H) inogona kukonzera chirwere ichi. Munhu ane Hh genotype anoratidza zviratidzo zvechirwere ichi. Kana munhu ane Hh (akarwara) akaroora munhu ane hh (ane hutano), zvinotevera ndizvo zvinogona kuitika kana majini avo asanganiswa:
- Mikana ye50% yekuti mwana achava neHh genotype (achava nechirwere ichi)
- Mikana ye50% yekuti mwana achava nehh genotype (isina kukanganiswa nechirwere)
Muchiitiko ichi, mwana wega wega wevaviri ava ane mukana we50% wekugara nhaka chirwere cheHuntington.
Muenzaniso Mubvunzo 3: Autosome Recessive
Mubvunzo: Vaviri ava vanotakura cystic fibrosis (genotype Ff) uye vanoda kuziva kuti vana vavo vangangove nechirwere ichi kubva muzana kusvika pazana ripi.
Kukurukurirana:
Cystic fibrosis chirwere chinogara nhaka chinonzi autosomal recessive disease, chinoda kuti zviratidzo zviratidzike sema "alleles" maviri (ff). Kana vabereki vese vari vaviri vane chirwere ichi (Ff), mhando dzemajini evana vavo ndeidzi dzinotevera:
– 25% mukana wekuti mwana ave neFF genotype (ane hutano uye asina chirwere ichi)
– Mikana ye50% yekuti mwana ave neFf genotype (ane hutano asi ari mutakuri)
- Mikana ye25% yekuti mwana achava ne ff genotype (achava nechirwere ichi)
Saka, pane mukana we25% wekuti mwana wevaviri ava achava nechirwere checystic fibrosis.
Kuchinja-chinja uye Kuonekwa kwezvirwere zvemajini
Nekufambira mberi muhunyanzvi hwemajini, kuonekwa nekukurumidza uye kurapwa kwezvirwere zvemajini kwave kushanda zvakanyanya. Kuongororwa kwemajini kunobvumira kuzivikanwa kwezvirwere zvakasiyana-siyana zvinoberekwa nemwana asati aberekwa, zvichiita kuti kurapwa nekukurumidza uye/kana sarudzo dziri nani dzekubereka.
Muenzaniso Mubvunzo 4: Kushandiswa kweKuongororwa kweMajini
Mubvunzo: Kushandiswa kwekuongorora majini kungabatsira sei vakaroorana vane nhoroondo yezvirwere zvemajini mumhuri dzavo?
Kukurukurirana:
Kuongororwa kwemajini kunogona kushandiswa pazvinangwa zvakasiyana-siyana. Kune vakaroorana vane nhoroondo yemhuri yezvirwere zvemajini, bvunzo iyi inogona kupa ruzivo rwakakosha nezvemamiriro emunhu mumwe nemumwe ane chirwere ichi. Izvi zvinovabvumira kunzwisisa mukana wavo wekutapurira chirwere kuvana vavo uye kufunga nezvesarudzo dzakadai se:
1. Kuongororwa Kwemwana Asati Aiswa Muchibereko (PGD): Kana vaviri vakasarudza kushandisa IVF, PGD inogona kuitwa pamazai emucheche kudzivirira kutapurirana kwezvirwere zvemajini.
2. Kupa Mazano kuMajini: Vakaroorana vanogona kubvunza nyanzvi yezvemajini kuti vanzwisise njodzi dzavo nesarudzo dzavo, uye kuti vawane rutsigiro rwepfungwa.
3. Kuongororwa kwemwana asati aberekwa: Nekuongororwa kwemwana asati aberekwa kwakadai seamniocentesis kana kuongororwa kweropa remwana asati aberekwa, zvirwere zvinogona kuitika mumwana zvinogona kuonekwa nekukurumidza panguva yekuzvitakura.
Kazhinji, kuonekwa nekupindira nekukurumidza kunogona kuderedza zvakanyanya kukanganiswa kwezvirwere zvemajini uye kuvandudza hupenyu hwevanhu vanogona kubatwa nazvo.
Mhedzisiro uye Tsika muKutsvagurudza kweMajini
Kuoma kwemajini evanhu kune simba guru kwete chete pahutano hwemunhu asiwo pamagariro evanhu netsika dzakapoteredza biotechnology nemajini.
Muenzaniso weMubvunzo 5: Tsika muKuchinja Majini
Mubvunzo: Kurukurai matambudziko etsika anogona kumuka kubva mukushandiswa kwetekinoroji yekuchinja majini senge CRISPR muvanhu.
Kukurukurirana:
Tekinoroji yakaita seCRISPR inobvumira kugadziriswa kwemajini nenzira yakanyatsojeka. Zvisinei, kushandisa tekinoroji iyi kuvanhu kunomutsa matambudziko akati wandei etsika, akadai se:
1. Kuchengetedzeka uye Kubudirira: Pane kunetseka nezvemigumisiro isingadiwe kana shanduko dzisiri dzechokwadi dzinogona kukonzera matambudziko matsva ehutano.
2. Kuwana Kuenzana Kwemari: Kuwana matekinoroji epamusoro seCRISPR kunogona kuwedzera musiyano pakati pevaya vanokwanisa kuzvitenga nevaya vasingakwanisi, zvichisiya mubvunzo wekuti ndiani anobatsirwa nebudiriro idzi.
3. Kufunga Nezvekushanduka-shanduka: Kuchinja kwemajini kwakagara nhaka kunogona kuva nemigumisiro yenguva refu pakukura kwevanhu iyo ingave isati yanyatsonzwisiswa.
4. Hupenyu uye Kuzivikanwa: Kugadziriswa kwemajini emwana ari mudumbu kunomutsa mibvunzo pamusoro pekodzero yekuita shanduko mukukura kwevanhu muzita rekuvandudzwa kwemajini.
Mukufambira mberi uku, zvakakosha kuva nehurongwa hwakasimba hwetsika nemutemo kuti ive nechokwadi chekuti matekinoroji aya anoshandiswa zvakanakira vanhu uye haakonzere njodzi dzisingatarisirwi.
Kuburikidza nekunzwisisa shanduko dzemuviri nezvirwere zvakagarwa nhaka, pamwe nekufambira mberi muhunyanzvi hwemajini, tinotarisira kuti tinogona kushandisa ruzivo urwu kuvandudza hutano hwevanhu zvakanyanya. Zvisinei, nzira iyi inofanira kushandiswa nekungwarira kugadzirisa matambudziko anobatanidzwa.
