Olivia Farnsworth, musikana mudiki akanaka akakatyamadza varapi pavakaona kuti ane chromosome isinganzwisisike iyo yakasiya kunzwa kwenzara, kuneta kana kurwadziwa kubva muhupenyu hwake zvachose. Chirwere “chisingawanzoitiki”.
Musikana 'bionic' Olivia Farnsworth
Musikana wekuUK Olivia anofungidzirwa kuti ndiye ega munhu pasirese anoratidzira zviratidzo zvitatu pamwechete. Zvinoshamisa uye zvinoshamisa panguva imwe chete.
Dambudziko rinoshamisa rinotomubvumira kuti aende mazuva mashanu kusvika matanhatu asina kurara uye kudya. Hupenyu hwake hwakarurama zvinoshamisa zvinoshamisa yakakomberedzwa nesainzi-chakavanzika chisingatsananguriki. Kutaura, Olivia ane hunyanzvi hunoshamisa hwemunhu hunokwezva mamirioni avanhu kuti vazive nyaya yake inonakidza.
Kunyangwe iyo isingawanzo mamiriro yaOlivia mudiki inotsanangurwa se "chromosome 6 kubviswa", kusanganiswa kwemano akanyanya-emunhu nenzira yakadaro hakuna kumbobvira kwataurwa kare. Vamwe vemachiremba vakatomuti "bionic musikana" akagadzirwa nesimbi uye haana kana pfungwa yenjodzi.
Maratidziro akaita chirwere ichi chisingawanzoonekwa muhupenyu hwaOlivia
Muna 2016, Olivia aingova nemakore manomwe, akambobuda naamai vake ndokumhanyiswa. Pakupedzisira, akarohwa nemotokari ndokuzvuzvurudzwa anenge mamita 7 pasi pomugwagwa. Pashure petsaona yakaipisisa iya, akangosimuka ndokutanga kufamba achidzokera kwaiva naamai vake. Akangoti, "Chii chiri kuitika?"
Nekuda kwekukanganisa, aifanira kunge akakuvara zvakaipisisa. Akanga ane mucherechedzo wetayi pachipfuva chake. Asi kukuvara kwake chete aive asina ganda pachigunwe chake nehudyu.
Zvakare, akambodonha zvakaipa ndokubvarura muromo wake uye haana chaakataura kuvabereki vake. Gare gare, aifanira kuvhiyiwa kwepurasitiki kukuru kuti agadzirise.
Chii chinonzi chromosome disorder?
Chromosome abnormality kana chromosome chirwere chisipo, chekuwedzera, kana chisina kujairika chikamu chechromosomal DNA. Vanhu vane dambudziko rekromosome vanotambura nezvirwere zvakasiyana-siyana nekuremara - chimwe chirwere chinowanzoitika iDown's Syndrome inova genetic chromosome 21 disorder inokonzera kukura uye kunonoka kwenjere. Asi nyaya yeBionic Musikana Olivia inoshamisa uye inonakidza kuita kuti chero munhu ashamiswe.
Iyo chromosomal deletion syndrome: Chii icho? Uye zvinokanganisa sei munhu?
Mukati memukono wesero redu roga roga remuviri mune miviri mikorobosikopu inonzi ma chromosomes ayo ane basa rekuita uye kubereka kwesero rega rega mumuviri wedu, zvichitipa simba rekuti tirarame. Chromosomes inogadzirwa nemamorekuru maviri akakura kana tambo dze deoxyribonucleic acid (DNA), chaizvo, tambo idzi dzinodaidzwa kuti majini, anopa mirairo inodzora mashandiro esero uye kubereka. Kutaura, majini anotonga zvese kuti tiite kuti tirarame.
Masero emunhu ane makumi maviri nematatu echromosomes (rimwe peya re "chromosomes yebonde" iro rinoratidza murume kana mukadzi uye makumi maviri nemaviri ma "autosomes" ane mamwe ese ruzivo rwemagene), zvichipa huwandu hwese 23 pasero. Nekudaro, isu tinowanzo kuve nemhando makumi maviri nematatu ema chromosomes uye tine makopi maviri echromosome yedu yega yega.
Chromosomal deletion syndromes inokonzeresa kubva zvishoma kana zvachose kubviswa kweimwe chete kana yakawanda chromosome-vaviri. Nekudaro, chromosomal deletion syndromes inowanzo ratidza kubviswa kwakakura kana kubviswa kwakazara kwevaviri kunoonekwa uchishandisa karyotyping maitiro. Kunyangwe, kumwe kurasikirwa kweiyo chaiyo gene-basa kunoonekwawo sechikamu cheChromosome kubviswa, sezvo iri diki fomu rekubvisa kana inonzi 'Chromosomal Microdeletion-chirwere'.
Kune mazana ezvirwere uye hurema hunobatanidzwa kune imwechete peya yekromosome kubviswa kana kurasikirwa kweiyo chaiyo magene-basa. Mimwe mienzaniso yeavo syndromes anotaurwa pazasi apa:
- Chromosome 5-Kubvisa izvo zvinokonzeresa cri du chat syndrome, chirwere chaPasinson, nezvimwe.
- Chromosome 4-Kubvisa izvo zvinokonzeresa Wolf-Hirschhorn syndrome, Gomarara redundira, Chirwere lymphocytic leukemia, nezvimwe.
- Prader-Willi chirwere - chaizvoizvo, iyi genetic disorder inoitika nekuda kwekurasikirwa kweiyo chaiyo gene-mabasa, panzvimbo yekubvisa chromosome. Muvana vachangoberekwa, zviratidzo zvinosanganisira tsandanyama dzisina simba, kusadya zvakanaka, uye kukura kunononoka.
- Angelman Syndrome (AS) – chirwere chemajini chinonyanya kukanganisa tsinga. Zviratidzo zvinosanganisira musoro mudiki uye chitarisiko chaicho chechiso, kuremara kwepfungwa kwakakomba, kuremara kwekukura, matambudziko ekutaura, kuenzana uye matambudziko ekufamba, pfari, uye matambudziko ekurara. Izvo zvinoitikawo nekuda kwekushanda-kurasikirwa kwemamwe majini chaiwo.
Chromosome 6 kubviswa kwaOlivia Farnsworth
Munyaya yaOlivia Farnsworth, Chromosome 6 yakasiyiwa zvachose iyo inowanzo kutenderera anopfuura mamirioni zana nemakumi mapfumbamwe emadziro (chivakwa cheDNA) uye inomiririra pakati pe170 ne5.5% yeDNA yakazara mumasero. Iine iyo Yakakura Histocompatibility Complex, ine mageneti anodarika zana ane chekuita nekuzvidzivirira kwemuviri, dzimwe mhinduro dzemuviri nemabasa avo akaoma kunzwisisa. Rudzi urwu rwe chromosomal deletion harina kumbobvira rataurwa kare, uye vaongorori vachiri kuwana kuti sei uye nei vakava nekusajairika uye kujairika kusagadzikana!
Nekudaro, kune akawanda akasiyana chromosome 6 aberrations anogoneka, imwe neimwe iine zviratidzo zvakasiyana, uye ese ari mashoma zvakanyanya. Rumwe ruzivo uye mukana wekusaina uye kutora chikamu mu "Chromosome 6 Research Project" iripo Chromosome6.org.
Ramangwana raOlivia Farnsworth
Olivia parizvino anogara muHuddersfield City, UK. Amai vake Nikki Trepak vanomuchengeta zvakanyanya. Kunyangwe Olivia asingambonzwa nzara, anoda kudya. Haanzwe kurwadziwa, asi muviri wake unogona kutambura, zvakapusa haazozviziva. Nekutenda, iye ane mhuri inotsigira iyo inogara ichichengeta yavo diki Olivia.
Amai vaOlivia nguva dzese vanova nechokwadi chekuti Olivia haasiye kudya uye anonwa macalorie anodikanwa kuti azvigadzirire iye. Asi chinosuwisa ndechekuti Olivia mudiki anopiwa mapiritsi ekurara manheru ega ega kuti azorore. Uye zvakare, ivo vanotora kuongororwa kwevhiki nevhiki kuti vaone kana asina kukuvara mukati kana chirwere.
Vachitevera kuraira kwachiremba, vabereki vaOlivia vanoramba vachimurera sevamwe vana. Vanomuendesa kuchikoro. Kunyangwe, pakati pematambudziko ese, iye anozivikanwa semudzidzi anoshinga pachikoro. Iye zvakare akanaka mumitambo nemitambo. Zvisinei, dambudziko roga nderekuti Olivia anotsamwa zvakanyanya kana mumwe munhu akamurova kana kumunyadzisa. Ipapo anoedza kuvakuvadza nechimwe chinhu kana kurovera musoro wake kumadziro nechisimba.
Vabereki vaOlivia vakatora nguva pamwe nevanoverengeka vezvepfungwa uye vezvepfungwa nezve dambudziko iri, asi hapana chavakakwanisa kuita nezvazvo. Sekureva kwavo, izvi zviratidzo zvematambudziko echimiro echromosome yaOlivia.
Ichokwadi kuti muviri waOlivia une mamwe maitiro akasarudzika anga achifadza vanhu kubva pakutanga. Asi chero munhu anogona kunyatsonzwa mashandiro anoita Olivia nemhuri yake mazuva ari mumamiriro anotambudza.
Zvakare, varapi havazive maitiro ekuita nenyaya isinganzwisisike yaOlivia Farnsworth, kana kana ichikwanisa kurapwa sezvo iri yekutanga kesi yakanyorwa munhoroondo.
Nechikonzero ichocho, amai vake Nikki Trepak uye mhuri vafunga kuve nechaunga chevanhu kuti vavabatsire kuramba vachipa mari kutsvagisa. Akatsigirwa neboka rekromosome disorder rinotsigira Unique.
Mushure mekuverenga nezvaOlivia Farnsworth, verenga nezvazvo Amina Ependieva - musikana wechiChechen anoyemurwa nekuda kwerunako rwake rusina kujairika. wobva waverenga nezve Natasha Demkina: Mukadzi ane X-ray maziso!
