KOKOA
ʻO Eva Novoa, ke alakaʻi o ka hui noiʻi Epitranscriptomics a me RNA Dynamics ma ka Center for Genomic Regulation (CRG) ma Barcelona, hana me nā nanopores, nā ʻano hana hoʻohālikelike ʻekolu o ka hanauna i hiki ai i kahi consortium honua ke kiʻi i ka genome primer kanaka. . Ua manaʻo ʻo ia he mea nui.
—He aha ka ʻōlelo a kēia mau genes hou 2.000 a mākou i ʻike ʻole ai ma mua?
—Ua hoʻoholo ʻia ke kaʻina i nalowale, akā ʻaʻole like ia me ka ʻike i kāna hana. He mau makahiki e hoʻokō ai me ka maopopo. ʻO ka mea nui, ʻo ia kahi hana nui e hoʻomaopopo pono i kā mākou genome a me kāna mau maʻi.
—No ke aha i lōʻihi loa ai ka hoʻopau ʻana o kēia 8% o ka genome?
—No ka mea, eia ke hana pinepine ia na kaina
mau manawa. Kapa ʻia lākou he mau ʻāpana liʻiliʻi liʻiliʻi, akā hiki ke lilo i mea koʻikoʻi no ka mea aia nā maʻi e like me Huntington kahi e hoʻoholo ai ka helu o ka hana hou ʻana inā he maʻi a olakino paha ke kanaka. ʻAʻole i hōʻike ʻia nā ʻenehana lua-hanau, e like me Illumina, no ka mea ua ʻoki lākou i ka DNA i mau ʻāpana liʻiliʻi. Ke ho'āʻo nei ʻoe e hōʻuluʻulu i ka puzzle, ʻaʻole ʻoe i ʻike pehea e kau ai. Eia naʻe, hiki i nā ʻenehana hou ke hoʻokaʻawale i nā ʻāpana DNA lōʻihi, ʻo ia hoʻi ka hana hou ʻana o ka genome.
- He aha nā noi e loaʻa iā ia?
—E hiki iā mākou ke ʻike i nā mea i ʻike ʻole ʻia ma mua, no ka mea ʻaʻohe wahi e palapala ai iā lākou. Ma ka ʻaoʻao ʻē aʻe, e ʻae kēia iā mākou e ʻike i ke kumu genetic o hereditary neurodegenerative encased algae ʻaʻole maopopo maoli i ke kumu genetic, e like me nā papa amyotrophic lateral sclerosis (ALS) o nā algae.
"He kipi ʻo ia.
-ʻAe. Noʻu, ʻo ka pono nui e loaʻa i kēia avant ka hiki ke hoʻokō i nā haʻawina olakino pilikino. ʻO ka loaʻa ʻana o kahi palapala ʻāina holoʻokoʻa o ka genome kahi milestone, e hele maoli ana ia i kahi au hou. Hoʻomaopopo i nā ʻano like ʻole. No ka laʻana, i ka maʻi kanesa, hiki iā mākou ke hoʻohālikelike i ke kanaka i loaʻa iā ia me kahi mea olakino. ʻIke ʻia ma kahi o ka ʻulaʻula-ʻulaʻula-ʻōmaʻomaʻo, he ʻulaʻula-ʻulaʻula kou, a ʻo ia ke kumu o ka maʻi.
— Hāʻawi ka haʻawina i ka ʻike koʻikoʻi e pili ana i nā centromere, no ke aha ko lākou mea nui?
— Mālama lākou i ka hui pū ʻana o nā chromosomes i ka wā o ka māhele cell. He mea nui e ʻike e pili ana i ke kaʻina, ehia mau hana hou ʻana a me ke ʻano o ka hana ʻana no ka mea ua ʻike ʻia ʻo nā hewa a me nā aberrations i ka hoʻokaʻawale ʻana o nā chromosomes hiki ke hoʻoulu i ka maʻi maʻi a me ka hāpai keiki.
"ʻO kēia ka genome kanaka piha hope loa?"
“ʻO kēia ka genome piha o ke kanaka. ʻAʻohe ala e ʻike ai i ka ʻokoʻa i loko o ke kanaka me ka genome hoʻokahi, ʻoi aku ka nui o nā mea hou aku e hoʻonohonoho ʻia me ka ʻenehana like, telomere e telomere. E hana ʻia ia i ka wā e hiki mai ana, no ka mea e maʻalahi a maʻalahi (i kēia lā hiki iā ʻoe ke kiʻi iā ia no hoʻokahi tausani euros) a laila hiki iā mākou ke hoʻolohe i ka hoʻololi ʻana o ke ʻano ma waena o nā genomes o nā poʻe like ʻole, ʻo ia ka mea a mākou e hoʻomau nei. pono e ike.
