“Nyengo yatsopano yamankhwala opangira munthu aliyense yayamba”

judith de georgeLANDANI

Eva Novoa, mtsogoleri wa gulu lofufuza la Epitranscriptomics ndi RNA Dynamics ku Center for Genomic Regulation (CRG) ku Barcelona, ​​​​amagwira ntchito ndi nanopores, njira zomwezo za m'badwo wachitatu zomwe zalola kuti mgwirizano wapadziko lonse lapansi upeze chiyambi chathunthu chamtundu wamunthu. . Iye ankaona kuti ndi chinthu chofunika kwambiri.

—Kodi majini 2.000 atsopanowa akutiuza chiyani zomwe sitinkadziwa kale?

-Kutsata komwe kunalibe kwadziwika, koma sikufanana ndi kudziwa ntchito yake. Zidzatenga zaka kuti mukwaniritse motsimikiza. Chofunikira ndichakuti ndi gawo lalikulu kuti timvetsetse bwino ma genome athu ndi matenda ake.

-N'chifukwa chiyani 8% ya genome iyi yatenga nthawi yayitali kuti ithe?

-Pakuti apa ndondomekozi zimabwerezedwa kambirimbiri

nthawi zotsatizana. Amatchedwa madera ocheperako, koma amatha kukhala ofunikira kwambiri chifukwa pali matenda ngati a Huntington omwe kuchuluka kwa kubwereza kumatsimikizira ngati munthu akudwala kapena wathanzi. Ukadaulo wa m'badwo wachiwiri, monga Illumina, sanawulule chifukwa adadula DNA kukhala tinthu tating'onoting'ono. Pamene mumayesa kusonkhanitsa chithunzicho, simunadziwe momwe mungayikitsire. Komabe, matekinoloje atsopano amalola kuti zidutswa za DNA zazitali zitsatidwe, zomwe zikutanthauza kukonzanso bwino kwa genome.

-Zikhala ndi ma application otani?

—Tidzatha kudziwana bwino lomwe, zomwe sizikanatheka kuziwona kale, chifukwa choti panalibe polemba mapu. Kumbali inayi, izi zitithandizanso kudziwa chomwe chimayambitsa ndere za cholowa cha neurodegenerative chomwe sichimvetsetsa chomwe chimayambitsa majini, monga magulu amyotrophic lateral sclerosis (ALS) a algae.

"Ndiwosintha.

-Inde. Kwa ine, chothandizira chachikulu chomwe avant adzakhala nacho ndikutha kuchita maphunziro achipatala payekha. Kukhala ndi mapu athunthu a genome ndichinthu chofunikira kwambiri, kubweretsa nyengo yatsopano. Mvetserani kusiyanasiyana kwamapangidwe. Mwachitsanzo, pa matenda a khansa tingayerekezere munthu amene akudwala matendawa ndi munthu wathanzi. Zikuoneka kuti m'malo mokhala ndi zofiira zofiira-zobiriwira, muli ndi zofiira-zobiriwira-zofiira, ndipo ndicho chifukwa cha matendawa.

-Phunziroli limapereka chidziwitso chofunikira chokhudza ma centromeres, chifukwa chiyani ndi ofunikira?

-Amasunga ma chromosome kukhala ogwirizana panthawi yagawikana ya maselo. Ndikofunika kudziwa za kutsatizana, kubwereza kangati komanso momwe zimagwirira ntchito chifukwa zimadziwika kuti zolakwika ndi zosokoneza pakulekanitsa ma chromosome zingayambitse khansa ndi kuchotsa mimba.

"Ili ndiye jini lathunthu lamunthu?"

“Ichi ndiye chibadwa chathunthu cha munthu. Palibe njira yodziwira kusiyana komwe kulipo mwa umunthu ndi genome imodzi, zambiri ziyenera kutsatiridwa ndi njira yomweyo, telomere ndi telomere. Zidzachitidwa m'tsogolomu, chifukwa zikukhala zosavuta komanso zotsika mtengo (lero mukhoza kuzipeza kwa ma euro chikwi) ndiyeno tidzatha kumvetsera kusiyana kwapangidwe pakati pa ma genomes a anthu osiyanasiyana, zomwe ndizomwe tidakali nazo. muyenera kudziwa.