NU-diń ǵalymdary 13 jyldan beri qazaqtardyń genin zertep júr. Qazaq halqynyń genomyn anyqtaý nesimen mańyzdy? Bul týraly NU-diń Ómir týraly ǵylymdar ortalyǵynyń Genomdyq jáne derbestendirilgen meditsina zerthanasynyń jetekshisi Ainur Aqyljanova ULT.KZ tilshisine aityp berdi.
Jalpy zerthanada 20-ǵa jýyq maman jumys isteidi. Ortalyq tolyǵymen zamanaýi qurylǵylarmen jabdyqtalǵan eken. NovaSeq 6000 sekvenatorynyń arqasynda DNQ-ǵa zertteý júrgizý álde qaida jyldam ótetin bolǵan dep otyr maman. Qazirgi ýaqytta zerthana birneshe baǵytta jumys istep jatqan kórinedi. Ainur Rahmetollaqyzy bizdi zerthanaǵa ertip aparyp, jumystarymen tanystyrdy.
-Zerthanadaǵy jumystaryńyz týraly aityp ótseńiz. Qazirgi ýaqytta qandai jobalarmen ainalysyp jatyrsyzdar?
-Bizdiń Genomdyq derbestik zerthana 2011 jyldan bastap jumys isteidi, al «Ómir týraly ǵylymdar ortalyǵy» 2010 jyldan beri jumys istep keledi. Bizdiń ortalyqta 8 zerthana bar. Sonyń biri bizdiń zerthana. Bizdiń zerthanada birneshe joba bar. Sonyń ishinde qazaq referens genomy jobasy, júrek qan tamyrlary jáne júrek aýrýlary naýqastarynyń genomdary, sosyn onkologiia aýrýlary genomynyń profilin jasaý degen jobalar bar. Sonyń ishinde qazaq genom jobasy maǵynaly jáne kúrdeli jumys. Ony biz bir jyldyń ishinde túgelin jasap bite almaimyz. Bastabynda 5 genomdy zerttep bastaǵanbyz, qazirgi kezde 1000 genomǵa zertteý jumystaryn júrgizdik. Onyń sanyn kóbeitken saiyn naqtylyǵy arta bermek.
Biz tolyq genomdy zertteimiz. Tolyq genom degenimiz 3 mlrd 200 mln nýkleotidter. DNQ sekvinerleý arqyly onyń ishindegi barlyq ózgeristerdi kórýge bolady. Bul ádis bizge barlyq 25-30 myń genniń ózgerisi týraly aqparat beredi. Qazaqstan referens genomdyq aqparat bazasy osy sekvinerlengen genomdar negizinde qurylady. Baqylaý tobynyń kómegimen naýqastardyń genomyn zerttegende osy aqparat bazasy arqyly salystyrmaly analiz jasaýǵa bolady. Genomnyń ishinde ózgerister bar ma, joq pa, patologiia bar ma, álde normaǵa sáikes pe ekenin kórýge múmkindik bar.
Qazirgi kezde saraptama jasaǵanda biz birinshiden qandai ózgerister paida bolady, sosyn aýrýlardyń patologiialyq ózgeristeri bar ma, joq pa sony kóremiz. Budan basqa farmakogenomika degen bólimde qandai dárilerdiń dozasyn qalai qabyldaýǵa bolady degendi kórýge bolady. Sonymen qatar, etnogenomika jaǵynan Y hromosomasyn, sosyn aýtosomalar ózgerisin zerttep, qazaq ultynda basqa ulttardan qandai aiyrmashylyǵy men uqsastyǵy bar ekenin jáne etnikalyq shyǵý tegin zertteýge bolady. Jańadan tapqan ózgeristerdi biz eksperiment arqyly ózgerister validatsiiasyn jasaimyz. Ol ózgerister aýrýǵa ákele me, joq pa ekenin tereńirek zertteimiz.
Biz osy jobalar aiasynda birqatar eldermen de birlesip jumys isteimiz. Mysaly Koreia, Japoniia, AQSh mamandarymen birlesip saraptama jasap, keibir ádisterin, baǵdarlamalaryn qabyldaimyz, salystyrmaly analizderdi birge jasaýǵa múmkindigimiz bar.
Sosyn ózimizdiń ýniversitetter men aýrýhanalarmen birigip jumys isteimiz. Olardan zertteýge adamdardyń genetikalyq biomaterialdaryn alamyz. Árine analiz jasaǵanda bioinformatikalyq ádisterdi qoldaný kerek. Bizde bioinformatikalyq zerthana bar. Ol zerthananyń jetekshisi Ulyqbek Qaiyrov.
Zertteý jasaǵanda jasandy intellekt, sýperkompiýter arqyly úlken saraptamalar jasaýǵa bolady. Zerttýdi tez jasaý úshin kompiýterdiń qýaty úlken bolýy kerek. Mysaly biz 2012 jyly 5 adamnyń ǵana genomyn zerttedik. Sebebi qurylǵylarymyzdyń múmkindigi shekteýli bolǵan. Al qazir jańa qurylǵylardyń arqasynda 1000 adamnyń genomyn jasap otyrmyz.
Sonymen qatar, bul zertteýler bazasy bir jerde saqtalýy úshin kompiýterdiń jady da úlken bolýy kerek. Árine, bul zertteýlerdiń barlyǵy qyrýar qarajatty talap etedi.
Osy barlyq jobalar, ásirese qazaq referens genomy jobasy derbestendirilgen meditsina negizin qurý úshin jumys isteidi. Genomdy bilgendikten biz durys diagnoz qoiýǵa, sosyn qandai aýrýlar bolýy múmkin ekenin boljaýǵa jáne patologiialyq mýtatsiiaǵa ushyraǵan gendi anyqtaýǵa jáne aldyn alýǵa jaqsy múmkindik bar.
-Sizder Qazaqstannyń óńir-óńirin aralap, qazaqtardyń genetikalyq materialyn jinap júr ekensizder. Qansha óńirge bardyńyzdar?
-Olardyń ishine Astanada turatyn adamdar bar. Olar elimizdiń ár aimaǵynan kelgen ǵoi. Sosyn Torǵai oblysyna bardyq, Qostanai men Qaraǵandy oblysyndaǵy Temirtaý, Osakarovka aýdany, Ereimentaý aýdandaryn araladyq. Sondai-aq, Shyǵys Qazaqstandaǵy Óskemen, Ridder, Zaisan, Qabanbai aýyldaryna baryp, zertteý jumystaryn júrgizdik. Kelesi baratyn jerimiz - Túrkistan, iaǵni elimizdiń ońtústik aimaǵyn zertteýge kirgizý josparymyzda bar. Sosyn, Aqtaý, Atyraý, Aqtóbe, Oral jaqtarǵa barmaqshymyz. Olardyń da qandaryn zerttep, bazaǵa engizý maqsatymyz bar.
Qazirgi maqsatymyz 1000 genomdy 5000-ǵa jetkizý. Qazaq genommen klinikalyq genomdy qosqanda bizde 2000-ǵa jýyq adamnyń genomy bar jáne 3000 adamnyń Y hromosoma genomdary bar.
-Osy ýaqytqa deiin qandai aýrýlardy zerttep, diagnostikasyn qoia aldyńyzdar?
-Eń negizgisi júrek qan tamyrlary aýrýlaryn zertteimiz. Sebebi bul aýrýlar adam ólimine ákeletin aýrýlardyń ishinde eń birinshi orynda tur. Onyń ishinde infarkt miokardy, insýlt jáne júrek aýrýlarynyń ishinde júrek yrǵaǵynyń buzylýy, sosyn kardiomiopatiialar men júrek ishemiiasy bar. Kardiomiopatiialardyń 40 paiyzynda genetikalyq ózgerister bolady. Sosyn, infarkt nemese insýlt bolǵan adamdarda qannyń qoiýlanýy jáne tromb paida bolady. Bul da genetikalyq ózgeristerden bolýy yqtimal.
Ekinshiden, onkologiialyq aýrýlarǵa ákeletin genetikalyq negizderin zertteimiz. Qandai mýtatsiialar qandai onkologiialyq aýrýlarǵa sáikes keledi? Mysaly qyltamaq nemese sútbezi qaterli isigine shaldyqqan adamda qandai genetikalyq mýtatsiia bolady, kolorektaldi qaterli isigine qandai ózgerister bolatynyn zertteimiz. Sosyn qazirgi kezde nevrologiialyq aýrýlar - altsgeimer, parkinson, epilepsiia siiaqty derttiń genetikalyq ózgeristerin anyqtaimyz.
Mysaly júrekten bolatyn kenet ólim kóp jaǵdaida infarktan bolady, biraq aýtopsiia nátijesi boiynsha olardyń 30 paiyzynda júrek aman bolyp shyǵady. Ol genetikalyq mýtatsiianyń saldarynan bolýy da múmkin. Júrek iondaryn kodtaityn genderinde, sosyn júrek metobolizmin kodtaityn genderinde mýtatsiia bolsa, jas kezinde naqty diagnozy qoiylmasa, júrekten bolatyn kenet ólimge alyp kelýi múmkin. Eger naýqastyń genin zerttesek, aldyn alý jumystaryn júrgizýge bolady.
-Bizde dárigerler Qazaqstanda júrek qan tamyrlary aýrýlary kóp kezdesetinin aityp jatady. Bul bizdiń genetikalyq turǵyda beiimdiligimiz bar degendi bildire me?
-Júrek qan tamyrlary aýrýlarynda birneshe qater faktorlary bar. Olardy modifikatsiialanǵan jáne modifikatsiialanbaǵan dep ataidy. Modifikatsiialanǵandaryna temeki shegý, ishimdik tutyný, qozǵalystyń azdyǵy men durys tamaqtanbaý siiaqty qosymsha qaýip-qaterdi joiý arqyly ózgertýge bolady. Al genetika men adamnyń jynysy ózgermeitin faktorǵa jatady. Sondyqtan biz genetikalyq turǵyda júrek aýrýyna beiimi bar adamǵa salaýatty ómir saltyn ustansa júrek aýrýynan saqtanýǵa múmkindigi bar ekenin aita alamyz. Al eger onyń júrek aýrýyna beiimi bar bolsa jáne temeki shegip, ishimdik ishse, durys tamaqtanbasa, onda árine ol tezirek aýrýǵa shaldyǵady.
Mysaly buryn semizdikke shaldyqqan adamdar az bolatyn, al qazir olardyń sany álde qaida kóp. Sondai-aq buǵan tamaqtaný ádeti de áser etedi. Gazdalǵan sýsyndar men fastfýdtar jeitin adam kóp. Buryn kúnine úsh ýaqyt qana tamaqtansaq, qazir kez kelgen jerden ýaqytqa qaramai tamaqtana beredi. Qazirgi kezde qan qysymy aýrýy da jasaryp ketti.
Buryn adamdar fizikalyq jumysty kóp istegendikten júrekteri jaqsy jumys istegen. Al qazir kóbinese keńsede otyramyz, qimyl-qozǵalymsymyz az. Sondyqtan júrek aýrýyna shaldyǵý yqtimaldyǵymyz joǵary.
Biz genetikalyq zertteýler jasaǵanda ata-anasynda júrek aýrýlary bolsa balalarynda mynandai-mynandai aýrýlar kezdesýi múmkin dep boljam jasai alamyz. Sondyqtan balalary mynandai áreketter arqyly júregin qaterden saqtai alady dep aita alamyz.
Negizi júrek qan tamyry aýrýlary bútkil álemde keń taraǵan. Onyń ishinde Qazaqstan aldyńǵy qatarlardyń birinde tur. Bul aýrý jasaryp, osy derttiń kesirinen ólim-jitim kóbeigen.
-Bizde qazaqta jeti ataǵa deiin qyz alyspaimyz, bizdiń qanymyz taza dep jatamyz. Jeti ataǵa deiin qyz alyspaǵannyń genimizge áseri qandai?
-Eki patologiialyq allel kezdesse ol aýrýǵa ákelýi múmkin. Bul patologiialyq allelder ata-anadan balaǵa beriledi. Eger ata-anasy týys bolsa, patologiialyq alleldiń kezdesý múmkindigi joǵary bolady. Bizdegi jeti ataǵa deiin qyz alysyp, berispeýi osy patologiialyq alleldiń kezdesý múmkindigin tómendetedi. Bir atadan taraǵan adamdardyń úilenýi mysaly evreilerde bar. Ortodoksaldy evreiler qazir jastaryna senderge úilenýge bolmaidy, dep aitady. Sebebi olardyń genderinde qandai patologiialyq gen bar ekenin biledi. Bul týraly bizge Izrailge barǵanda sol jaqtaǵy mamandar aitty.
-Evrei demekshi, olarda shejireni anadan taratady, al bizde atadan taratady. Jalpy urpaqqa ananyń geni kóbirek berile me, álde ataniki me?
- Urpaqqa atasynyń 50 paiyz jáne anasynyń 50 paiyz geni beriledi. Bizde genetikalyq shejireni atadan taratyp, zertteýge bolady. Biraq anasyna qarasaq, Y horomosoma joq, mitohondrialdy DNQ arqyly ǵana kóre alamyz. Mitohondrialdy DNQ arqyly qarasaq, geterogendilik pen ulttardyń aralasý tipti kóp bolady. Ol adamnyń geninde orys, ózbek, taǵy da basqa ulttardyń geni shyǵýy múmkin.
Biz qazaq genomyn jasaǵanda shejiresin suraimyz. Jeti atasyn bilmese de, ata-anań, ata-ájeń kim boldy, qai ulttan, qai rýdan, qai oblystan ekenin suraimyz. Eger olardyń barlyǵy qazaq bolsa, qazaq genomy jobasyna engizmiz. Al eger shejiresinde ózge ult ókili bolsa, ony qazaq genomyna emes, basqa bazaǵa kirgizmiz.
Al evreilerde shejireni anadan taratýynyń tarihi sebepteri bolýy múmkin. Ol jaǵyn naqty aita almaimyn.
-Bizdiń qanymyzda qandai ulttyń geni basym?
-Bizde Ortalyq Aziia elderiniń barlyq ulttarynyń genetikalyq ózgeristeri bar dep oilaimyz. Sosyn bizde shamamen 40 paiyz Aziia elderi men Eýropa elderindegi ulttardyń jáne 30-35 paiyz Sibir ulttarynyń genomy qalyptasqan. Onyń geografiialyq ornalasý ereksheligi men elimizdiń Jibek joly boiynda bolǵany jáne Altyn Orda dáýirindegi tarihi oqiǵalar, Sovet Úkimetiniń áseri siiaqty tarihi sebepteri de bar.
Qazir genetikada ejelgi DNQ dep te aitady. Ejelgi DNQ-ny zerttegenderdiń kei bireýi adamzattyń ómiri Sibirde bastalǵan bolýy múmkin, dep aitady.
-Afrikadan shyqqa degendi estip edik...
-Bireýi Afrikadan shyqqan dese, taǵy bireýi Sibirdegi Altai taýlarynan degen boljam aitady. Ol ejelgi DNQ zertteýleri boiynsha jasalǵan tujyrym. Qazaq jeri Ortalyq Aziiada ornalasqandyqtan ejelgi dáýirdiń ózinde adamdardyń migratsiiasy bolǵan. Saqtar, Ǵundar bolǵan, al Deshti-Qypshaqtar bolǵanda bizdiń taipalar Vengriiaǵa deiin jetken. Majarlarmen bizde genetikalyq sáikestikter kóp. Keibireýler bizge japondar uqsaidy dep aitady. Árine kóshpendi halyq bolǵandyqtan olarmen de genetikalyq bailanysymyz bar. Bering buǵazynda buryn Amerika men Eýraziia qosylǵan ǵoi? Bul amerikalyq úndistermen genetikalyq uqsastyǵymyzdyń bolýyna sebep shyǵar.
Eki jyl buryn biz Ońtústik Afrikaǵa ǵylymi konferentsiiaǵa bardyq. Ońtústik Afrikada «Qoisan» degen taipa bar eken. Olardyń genetikasy negroid tektes emes, mońǵoloidqa jatady eken. Olar Eýraziiadan Ońtústik Afrikaǵa aýyp barǵan adamdar shyǵar? Olar da kóshpendi ómir saltyn ustanady eken. Olarda da genetikalyq shejire, genom referensi degen syndy jobalar jasaidy.
-Bizde «qazaq – qyrǵyz bir týǵan» degen sóz bar. Túr-álpetimiz de qyrǵyzdarǵa uqsaidy. Genetikalyq turǵyda qyrǵyzdarǵa qanshalyqty uqsaimyz?
-Analyz jasaǵanda genetikalyq alshaqtyq degen bar. Sol genetikalyq alshaqtyq boiynsha biz qyrǵyzdarǵa jaqynbyz. Uiǵyrlarǵa da jaqynbyz. Biraq Enisei qyrǵyzdary degen bar. Olarmen alysyraqpyz. Iá, biz genetikalyq turǵyda qyrǵyzdarǵa jaqynbyz, alaida uqsamaityn tustarymyz da bar. Bizde túrki tildes halyqtarmen jaqyndyǵymyz kóp. Altai tildes halyqtarmen, olardyń ishinde káristermen, japondarmen, býriattarmen sáikestik bar. Al parsy tildi halyqtarmen, mysaly Aýǵanstan, Pákistan jaqta genom qazaqtarmen salystyrǵanda kishkene ózgeshe. Buǵan halyqtyń migratsiiasy áser etken shyǵar.
Genetikalyq taldaý jasatqan kei adamdar meniń atalarym Sardiniiadan eken, deidi, bireýler meniń atalarym Kavkazdan kelgen eken deidi, taǵy bireýler findik genin bilip, tańqalyp jatady.
Bizde genetikalyq zertteýler júrgizýge barlyq múmkindik bar. Sondyqtan osyndai jobalardy jalǵastyrýymyz kerek. Zamanaýi, erekshe qurylǵylar bizde ǵana bar. Jobalarymyzǵa aqsha bólinip otyr. Sondyqtan jumysymyzdyń qarqynyn arttyryp, basqa ortalyqtarmen seriktestikti jalǵastyrýǵa tiispiz. Qazaqstannyń genetikter qoǵamyn qurý boiynsha jumystar júrgizilip jatyr. Qoǵamnyń maqsaty elimizdegi barlyq genetikany zertteitin mamandardyń basyn qosý. Genetika salasyn meditsina baǵaty boiynsha da, bilim salasy boiynda da damytyp jatyrmyz. Sondyqtan jumysymyzdy toqtatpaimyz. Tek damytyp, aiasyn keńeitýdi ǵana oilap otyrmyz.
Suhbattasqan Baljan Jeńisqyzy, ULT.KZ
