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DNA ndiyo hwaro hwehupenyu hwese hwebhayoloji uye yakatanga kuwanikwa muna 1869 ne Swiss chemist Friedrich Miescher.Zana remakore rezviwanikwa zvekuwedzera zvakaita kuti James Watson, Francis Crick, Rosalind Franklin, naMaurice Wilkins muna 1953 vagadzire modhi ye “double helix” yava kuzivikanwa, ine cheni mbiri dzakarukwa.Nekunzwisisa kwekupedzisira kwechimiro cheDNA, zvakatora mamwe makore makumi mashanu kuti genome remunhu rakakwana risati ratevedzana muna 2003 neHuman Genome Project.
Kutevedzana kwegenome remunhu pakutanga kwemireniyamu inguva yekushanduka mukunzwisisa kwedu biology yemunhu.Pakupedzisira, tinogona kuverenga bumbiro rezvakasikwa.
Kubva ipapo, matekinoroji atinogona kushandisa kuverenga genome yemunhu akafambira mberi nekukurumidza.Zvakatora makore gumi nematatu kutevedza genome yekutanga, izvo zvaireva kuti zvidzidzo zvesainzi zvakawanda zvaingotarisa pane zvimwe zvikamu zveDNA.Iyo genome yese yemunhu ikozvino inogona kutevedzana muzuva rimwe.Kufambira mberi mune iyi tekinoroji yekutevedzana kwakatungamira kune shanduko huru mukukwanisa kwedu kunzwisisa genome yemunhu.Tsvakurudzo huru yesainzi yakavandudza manzwisisiro edu ehukama pakati pezvimwe zvikamu zveDNA (majini) uye humwe hunhu nehunhu hwedu.Nekudaro, pesvedzero yemajini pahunhu hwakasiyana ipikicha yakaoma kunzwisisa: mumwe nemumwe wedu ane 20,000 majini anoshanda mumanetiweki akaomarara anokanganisa hunhu hwedu.
Kusvika iye zvino, chinangwa chekutsvakurudza chave chiri chehutano uye chirwere, uye mune dzimwe nguva takaita kufambira mberi kukuru.Apa ndipo apo genomics inova chishandiso chakakosha mukunzwisisa kwedu hutano nekufambira mberi kwechirwere.Iyo UK inotungamira pasi rose genomics zvivakwa inoisa iyo pamberi penyika maererano negenomic data uye tsvagiridzo.
Izvi zvave pachena panguva yese yeCOVID denda, neUK ichitungamira nzira mukutevedzana kwegenome kwehutachiona hweSARS-CoV-2.Genomics yagadzirira kuve mbiru yepakati yeUK ramangwana rehutano system.Inofanira kuwedzera kupa kuvhenekwa kwezvirwere, kuongororwa kwezvirwere zvisingawanzo genetic uye kubatsira zvirinani kugadzirisa hutano kuvanhu.
Masayendisiti ari kunzwisisa zviri nani kuti DNA yedu yakabatanidzwa sei kune zvakasiyana-siyana zvehutano mune dzimwe nzvimbo kunze kwehutano, zvakadai sebasa, mitambo uye dzidzo.Tsvagiridzo iyi yakashandisa genomic zvivakwa zvakagadziridzwa kutsvagisa nezvehutano, kushandura manzwisisiro edu ekuti huwandu hwakawanda hwehunhu hwevanhu hunoumbwa uye kugadzirwa sei.Nepo ruzivo rwedu genomic rwehunhu husina hutano huri kukura, hunosara kumashure kwehutano hwakanaka.
Mikana nematambudziko atinoona mune zvehutano genomics, sekuda kwekupa mazano ezve genetic kana kuongororwa kunopa ruzivo rwakakwana kururamisa kushandiswa kwayo, kuvhura hwindo mune ramangwana rinogona kuitika reasina hutano genomics.
Pamusoro pekuwedzera kwekushandiswa kweruzivo rwe genomic muhutano hwehutano, nhamba inowedzera yevanhu iri kuziva ruzivo rwe genomic kuburikidza nemakambani ega ega anopa zvakananga-kune-vatengi mabasa.Nemubhadharo, makambani aya anopa vanhu mukana wekudzidza madzitateguru avo uye kuwana ruzivo rwe genomic nezve hunhu hwakasiyana.
Kukura ruzivo kubva kutsvagurudzo yepasirese kwakagonesa kubudirira kubudirira kwehunyanzvi hutsva, uye kurongeka kwatinogona kufanotaura hunhu hwevanhu kubva kuDNA kuri kuwedzera.Pamusoro pekunzwisisa, ikozvino zvave kugona kugadzirisa mamwe majini.
Kunyange zvazvo genomics ine mukana wekushandura zvinhu zvakawanda zvevanhu, kushandiswa kwayo kunogona kuuya nehutsika, data uye kuchengetedza ngozi.Panhanho dzenyika uye dzepasirese, kushandiswa kwegenomics kunodzorwa nehuwandu hwemirayiridzo yekuzvidira uye mimwe mitemo yakajairika kwete yakanangana negenomics, senge General Data Protection Law.Sezvo simba re genomics richikura uye kushandiswa kwaro kunowedzera, hurumende dziri kuwedzera kutarisana nesarudzo yekuti nzira iyi icharamba ichinyatsobatanidza genomics munharaunda.Kubatanidza masimba akasiyana eUK mune zvivakwa uye genomics kutsvagisa kunoda kushanda kwakarongeka kubva kuhurumende neindasitiri.
Kudai waizogona kuona kana mwana wako achigona shasha mumitambo kana kuti mufundo, waizodaro here?
Iyi ingori mimwe yemibvunzo yatingangotarisana nayo munguva pfupi iri kutevera sezvo genomic sainzi inotipa ruzivo rwakawanda nezve genome yemunhu uye basa raanoita mukupesvedzera hunhu nemaitiro edu.
Ruzivo nezve genome remunhu — kutevedzana kwaro kwedeoxyribonucleic acid (DNA) — riri kutoshandiswa kugadzira mamwe maongororo ekurapa uye kurapwa kwemunhu.Asi isu tiri kutangawo kunzwisisa kuti genome inokanganisa sei hunhu uye maitiro evanhu kupfuura hutano.
Patova nehumbowo hwekuti genome inokanganisa hunhu husiri hwehutano hwakadai sekutora njodzi, kugadzira zvinhu uye kushandisa.Sezvatinodzidza zvakawanda pamusoro pekuti majini anopesvedzera sei hunhu, tinokwanisa kufanotaura zvirinani kuti zvinobvira sei uye kusvika papi mumwe munhu achakudziridza hunhu ihwohwo zvichienderana nekutevedzana kwavo kwegenome.
Izvi zvinomutsa mibvunzo yakawanda inokosha.Mashoko aya anoshandiswa sei?Izvi zvinorevei kunzanga yedu?Mitemo ingada kugadziriswa sei muzvikamu zvakasiyana?Tinoda mimwe mitemo here?Tichagadzirisa sei nyaya dzetsika dzakasimudzwa, tichigadzirisa njodzi dzerusarura uye zvinogona kutyisidzira kuvanzika?
Nepo zvimwe zvingango shandiswa zve genomics zvingave zvisingaite munguva pfupi kana yepakati, nzira nyowani dzekushandisa ruzivo rwe genomic dziri kuongororwa nhasi.Izvi zvinoreva kuti ino ndiyo nguva yekufanotaura nezvekushandiswa kwemangwana kwegenomics.Isu tinofanirwawo kufunga nezve mhedzisiro inogona kuitika kana genomic masevhisi akawanikidzwa kune veruzhinji sainzi isati yanyatso gadzirira.Izvi zvinotitendera kuti titarise nemazvo mikana nenjodzi dzinogona kupihwa idzi nyowani dzegenomics uye kuona zvatingaite mukupindura.
Chirevo ichi chinosuma genomics kune vasiri nyanzvi, inoongorora mafambiro akaita sainzi, uye kuyedza kufunga nezve mabatiro ayo pandima dzakasiyana.Chirevo chinotarisa chingave chiri kuitika iye zvino uye chii chingazoitika mune ramangwana, uye inoongorora uko simba re genomics ringave rakanyanyisa.
Genomics haisi nyaya yehutano hwehutano.Izvi zvinogona kukanganisa nzvimbo dzakasiyana-siyana dzemitemo, kubva padzidzo uye hutongi hwemhosva kusvika kumabasa neinishuwarenzi.Chirevo ichi chinotarisa pane zvisiri zvehutano hwevanhu genomics.Ari kuongororawo kushandiswa kwegenome mune zvekurima, ecology uye synthetic biology kuti anzwisise hupamhi hwekushandisa kwayo mune dzimwe nzvimbo.
Nekudaro, zvizhinji zvezvatinoziva nezve genomics dzevanhu zvinobva mukutsvagisa kuongorora basa rayo muhutano uye chirwere.Hutano inzvimbo zvakare uko akawanda angangoita maapplication ari kugadzirwa.Ndipo patichatangira, uye Zvitsauko 2 ne3 zvinopa sainzi nekuvandudzwa kwegenomics.Izvi zvinopa mamiriro emunda we genomics uye zvinopa ruzivo rwehunyanzvi hunodiwa kuti unzwisise kuti genomics inobata sei nzvimbo dzisiri dzehutano.Vaverengi vasina ruzivo rwehunyanzvi vanogona kusvetuka sumo ino zvakachengetedzeka kuenda kuZvitsauko 4, 5, uye 6, izvo zvinopa zviri mukati memushumo uyu.
Vanhu vagara vachifadzwa nemajini edu uye basa raanoita mukuumbwa kwedu.Isu tinotsvaka kunzwisisa kuti majini anopesvedzera sei hunhu hwedu hwemuviri, hutano, hunhu, hunhu uye hunyanzvi, uye mabatiro azvinoita nekukanganisa kwezvakatipoteredza.
£ 4 bhiriyoni, 13 makore emutengo uye nguva yekuvandudza yekutanga genome sequence yemunhu (inflation-yakagadziriswa mutengo).
Genomics chidzidzo chezvipenyu 'genomes - kutevedzana kwadzo kweDNA - uye mashandisiro emajini edu ese anoshanda pamwechete mumasisitimu edu ebhayoloji.Muzana ramakore rechi20, kudzidza kwema genomes kwaingove kutariswa kwemapatya kuti adzidze basa rekugara nhaka uye zvakatipoteredza mune zvemuviri nehunhu hunhu (kana "hunhu nekurera").Nekudaro, iyo yepakati-2000s yakaratidzwa nekutanga kuburitswa kweiyo genome yemunhu uye kuvandudzwa kwekukurumidza uye kwakachipa genomic technologies.
Nzira idzi dzinoreva kuti vatsvakurudzi vanogona pakupedzisira kudzidza genetic code zvakananga, pamutengo wakaderera zvikuru uye nguva.Kutevedzana kwemagenome emunhu, kwaimbotora makore uye kuchidya mabhiriyoni emapaunzi, kwava kutora isingasviki zuva uye kunoda mari inosvika £800 [mashoko omuzasi 1].Vatsvagiri vanogona ikozvino kuongorora genomes emazana evanhu kana kubatanidza kune biobanks ine ruzivo nezve genomes ezviuru zvevanhu.Nekuda kweizvozvo, genomic data iri kuunganidzwa muhuwandu hukuru kuti ishandiswe mukutsvaga.
Kusvika ikozvino, genomics yave ichishandiswa zvakanyanya muhutano hwehutano nekutsvaga kwekurapa.Semuyenzaniso, kuzivisa kuvepo kweakakanganisika genetic akasiyana, senge BRCA1 musiyano wakabatana negomarara rezamu.Izvi zvinogona kubvumira kurapwa kwekutanga kwekudzivirira, izvo zvisingagoneke pasina ruzivo rwejenome.Zvisinei, sezvo kunzwisisa kwedu kwegenomics kwakavandudzika, zvave zvichiwedzera kujeka kuti simba rejenome rinowedzera kupfuura hutano uye zvirwere.
Kwemakore makumi maviri adarika, kuda kunzwisisa chimiro chedu chemajini kwakafambira mberi zvakanyanya.Tave kutanga kunzwisisa maumbirwo nemashandiro ejenome, asi pachine zvakawanda zvekudzidza.
Isu takaziva kubva kuma1950s kuti kutevedzana kwedu kweDNA ndiyo kodhi ine mirairo yemagadzirirwo emasero edu mapuroteni.Jini rega rega rinoenderana nepuroteni yakaparadzana inosarudza maitiro echipenyu (semuvara weziso kana saizi yeruva).DNA inogona kupesvedzera hunhu kuburikidza nenzira dzakasiyana-siyana: jini rimwe chete rinogona kuona hunhu (semuenzaniso, ABO rudzi rweropa), majini akati wandei anogona kuita synergistically (semuenzaniso, kukura kweganda uye pigmentation), kana mamwe majini anogona kupindirana, kuvharidzira pesvedzero yeakasiyana. majini.majini.mamwe majini (akadai semhanza uye ruvara rwebvudzi).
Hunhu huzhinji hunopesvedzerwa nekuita kwakabatanidzwa kwevakawanda (zvichida zviuru) zvezvikamu zveDNA zvakasiyana.Asi kuchinja kweDNA yedu kunokonzera kuchinja kweprotein, izvo zvinogona kutungamirira kukuchinja maitiro.Ndiyo mutyairi mukuru wekusiyana kwezvinhu zvipenyu, kusiyana-siyana uye chirwere.Shanduko dzinogona kupa munhu mukana kana kukanganisa, kusandura kwaakarerekera, kana kusave nemhedzisiro.Inogona kupfuudzwa mumhuri kana kubva pakubata pamuviri.Zvisinei, kana vakakura, izvi zvinowanzoita kuti vaonekwe nevanhu pane kuvana vavo.
Kusiyana kwemaitiro kunogonawo kukanganiswa ne epigenetic maitiro.Vanogona kudzora kuti majini akabatidzwa here kana kuti akavharwa.Kusiyana nekuchinja kwemajini, ivo vanodzorereka uye zvimwe zvinoenderana nemhoteredzo.Izvi zvinoreva kuti kunzwisisa chikonzero cheunhu haisi nyaya yekudzidza iyo kutevedzana kwemajini kunokanganisa hunhu hwega hwega.Izvo zvinodikanwa kuti titarise genetics mune yakafara mamiriro, kuti tinzwisise network nekudyidzana mukati meiyo genome, pamwe nebasa rezvakatipoteredza.
Genomic tekinoroji inogona kushandiswa kuona genetic kutevedzana kwemunhu.Idzi nzira dzave kushandiswa zvakanyanya muzvidzidzo zvakawanda uye dziri kuwedzera kupihwa nemakambani ekutengesa ehutano kana kuongororwa kwemadzitateguru.Nzira dzinoshandiswa nemakambani kana vatsvakurudzi kuona kutevedzana kwemajini emumwe munhu dzinosiyana, asi kusvika nguva pfupi yadarika, imwe nzira inonzi DNA microarraying ndiyo yainyanya kushandiswa.Microarrays inoyera zvikamu zvegenome remunhu pane kuverenga kutevedzana kwese.Nhoroondo, ma microchips anga ari nyore, akakurumidza, uye akachipa kupfuura dzimwe nzira, asi kushandiswa kwawo kune zvimwe zvisingakwanisi.
Kana data yaunganidzwa, inogona kudzidzwa pamwero uchishandisa genome-wide association zvidzidzo (kana GWAS).Zvidzidzo izvi zviri kutsvaga ma genetic akasiyana ane hukama nehumwe hunhu.Nekudaro, kusvika parizvino, kunyangwe zvidzidzo zvakakura zvakangoratidza chidimbu cheiyo genetic mhedzisiro iri pasi pehuzhinji hwehunhu zvichienzaniswa nezvatingatarisira kubva kune mapatya zvidzidzo.Kutadza kuziva zvese zvine chekuita nemajini mamakisi ehunhu inozivikanwa se "kushaikwa nhaka" dambudziko.[mashoko omuzasi 2]
Zvisinei, kukwanisa kweGWAS kuziva zvakasiyana-siyana zvemajini kunovandudza nehuwandu hwemashoko, saka dambudziko rekushaya nhaka rinogona kugadziriswa sezvo data yakawanda yejenomic inounganidzwa.
Pamusoro pezvo, sezvo mitengo ichiramba ichidonha uye tekinoroji ichiramba ichivandudza, vaongorori vakawanda vari kushandisa nzira inonzi whole genome sequencing pachinzvimbo chemicroarrays.Izvi zvinoverenga zvakananga kutevedzana kwegenome kwete kutevedzana.Kutevedzana kunogona kukunda akawanda ezvipimo zvine chekuita nemicroarrays, zvichikonzera kupfuma uye ruzivo ruzivo.Iyi data iri kubatsirawo kuderedza dambudziko rekusava nhaka, zvinoreva kuti tiri kutanga kudzidza zvakawanda pamusoro pekuti ndeapi majini anoshanda pamwe chete kuti ape hunhu.
Saizvozvo, muunganidzwa wakakura wekutevedzana kwegenome parizvino wakarongerwa zvinangwa zvehutano hweveruzhinji kunopa akapfuma uye akavimbika dhatabheti ekutsvaga.Izvi zvichabatsira avo vanodzidza maitiro ane hutano uye asina kunaka.
Sezvatinodzidza zvakawanda pamusoro pekuti majini anopesvedzera sei hunhu, tinokwanisa kufanotaura zviri nani kuti majini akasiyana angashanda sei pamwechete kune humwe hunhu.Izvi zvinoitwa nekubatanidza putative mhedzisiro kubva kune akawanda majini kuita imwe chiyero chemajini mutoro, unozivikanwa sepolygenic mamakisi.Polygenic zvibodzwa zvinowanzove zvakanyatsofanotaura zvekugona kwemunhu kukudziridza hunhu pane ega genetic mamaki.
Polygenic scores parizvino iri kuwana mukurumbira mukutsvaga kwehutano nechinangwa chezuva rimwe kuvashandisa kutungamira kupindira kwekiriniki padanho rega rega.Nekudaro, zvibodzwa zvepolygenic zvinoganhurirwa neGWAS, saka vazhinji havasati vafanotaura hunhu hwavo hwavanovavarira nemazvo, uye zvibodzwa zvepolygenic zvekukura zvinongowana 25% kufanotaura chokwadi.[Mashoko Omuzasi 3] Izvi zvinoreva kuti kune zvimwe zviratidzo zvingasava zvakarurama sedzimwe nzira dzokuongorora nadzo dzakadai sokuongororwa ropa kana kuti MRI.Nekudaro, sezvo genomic data inovandudza, iko kurongeka kwefungidziro yepolygenicity kunofanirawo kuvandudza.Mune ramangwana, zvibodzwa zvepolygenic zvinogona kupa ruzivo pamusoro penjodzi yekiriniki kare kupfuura echinyakare maturusi ekuongorora, uye nenzira imwechete anogona kushandiswa kufanotaura zvisiri zvehutano.
Asi, seyese nzira, ine painogumira.Mhedzisiro huru yeGWAS ndeyekusiyana-siyana kwe data inoshandiswa, iyo isingaratidzi kusiyana kwehuwandu hwevanhu vose.Zvidzidzo zvakaratidza kuti kusvika 83% yeGWAS inoitwa mumapoka eEuropean chete.[Mashoko Omuzasi 4] Zviri pachena kuti izvi zvine dambudziko nokuti zvinoreva kuti GWAS inogona kushanda kune vamwe vanhu.Nokudaro, kukurudzirwa uye kushandiswa kwezviedzo zvekufungidzira zvichibva pamigumisiro yehuwandu hweGWAS inogona kukonzera rusarura kuvanhu vari kunze kwehuwandu hweGWAS.
Kune asiri ehutano hunhu, fungidziro yakavakirwa papolygenic mamakisi parizvino haina ruzivo pane inowanikwa isiri-genomic ruzivo.Semuyenzaniso, zvibodzwa zvepolygeniki zvekufanotaura kuwanikwa kwedzidzo (chimwe chezvibodzwa zvine simba zvepolyjeni zviripo) hazvina ruzivo rwakanyanya pane zviyero zviri nyore zvedzidzo yevabereki.[Mashoko Omuzasi 5] Simba rekufanoziva remaporijeni zvibodzwa zvicharamba zvichiwedzera sezvo ukuru uye kusiyana-siyana kwezvidzidzo, pamwe chete neongororo dzinobva pamashoko akazara ekutevedzana kwegenome.
Tsvagiridzo yeGenome inotarisa pane genomics yehutano uye chirwere, ichibatsira kuona zvikamu zvejenome zvinokanganisa njodzi yechirwere.Zvatinoziva nezve basa re genomics zvinoenderana nechirwere.Kune zvimwe zvirwere zvemajini, senge hosha yaHuntington, tinogona kufanotaura nenzira kwayo mukana wekuti munhu aite chirwere ichi zvichienderana nedata ravo re genomic.Kune zvirwere zvinokonzerwa nemajini akawanda akabatanidzwa nemafungiro ezvakatipoteredza, zvakadai sehosha yemwoyo, kururamisa kwekufanotaura kwegenomic kwaive kwakaderera zvikuru.Kazhinji, zvakanyanya kuoma chirwere kana hunhu, zvakanyanya kuoma kunzwisisa uye kufanotaura.Nekudaro, kunyatsofanotaura kunovandudza sezvo cohorts dzakadzidzwa dzinokura uye dzakasiyana.
Iyo UK iri pamberi pehutano genomics research.Isu takagadzira zvivakwa zvakakura mugenomic tekinoroji, dhatabhesi rekutsvaga uye simba rekombuta.Iyo UK yakaita mupiro wakakura kuruzivo rwepasi rose genome, kunyanya panguva yeCOVID-19 denda apo takatungamira nzira mukutevedzana kwegenome kwehutachiona hweSARS-CoV-2 uye mitsva mitsva.
Genome UK ndiyo yeUK's ambitious strategy ye genomic health, neNHS inobatanidza genome sequencing mune yenguva dzose kutarisirwa kwekiriniki yekuongororwa kwezvirwere zvisingawanzo, gomarara kana zvirwere zvinotapukira.[Mashoko Omuzasi 6]
Izvi zvichatungamirawo kukuwedzera kukuru kwenhamba yevanhu genomes inowanikwa yekutsvaga.Izvi zvinofanirwa kubvumidza kutsvagisa kwakafara uye kuvhura mikana mitsva yekushandiswa kwegenomics.Semutungamiri wepasi rose mukuvandudza data regenomic uye zvivakwa, iyo UK ine mukana wekuve mutungamiri wepasi rose mutsika uye kudzora kwesainzi genomic.
Direct Consumption (DTC) genetic test kits inotengeswa zvakananga kune vatengi pasina kubatanidzwa kwevanopa hutano.Saliva swabs inotumirwa kunoongororwa, ichipa vatengi hutano hwemunhu kana ongororo yekutanga mumavhiki mashoma.Musika uyu uri kukura nekukurumidza, nemakumi emamiriyoni evatengi pasi rese vachiendesa maDNA samples kuti vatevedzere zvekutengesa kuti vawane nzwisiso yehutano hwavo, dzinza uye genetic predisposition yehunhu.
Kurongeka kwemamwe genome-based analytics anopa zvakananga-kune-vatengi masevhisi anogona kunge akaderera zvakanyanya.Miedzo inogona zvakare kukanganisa kuvanzika kwemunhu kuburikidza nekugovana data, kuzivikanwa kwehama, uye kukanganisa kunogona kuitika mucybersecurity protocol.Vatengi vanogona kusanzwisisa zvizere nyaya idzi kana vachibata nekambani yeDTC yekuyedza.
Genomic kuyedzwa kweDTCs yeasiri-ekurapa maitiro zvakare haina kudzorwa.Ivo vanodarika mutemo unotonga genomic yekurapa uye vanovimba nekuzvidira kuzvitonga kwevanopa bvunzo.Mazhinji emakambani aya anogarawo kunze kweUK uye haana kudzorwa muUK.
Kutevedzana kweDNA kune simba rakasiyana musainzi yeforensic kuona vanhu vasingazivikanwe.Kuongorora kweBasic DNA kwave kushandiswa zvakanyanya kubva pakagadzirwa DNA zvigunwe muna 1984, uye UK National DNA Database (NDNAD) ine 5.7 miriyoni profiles uye 631,000 marekodhi echiitiko chemhosva.[Mashoko Omuzasi 8]
Nguva yekutumira: Feb-14-2023