GENETIKAI TIBBi

GENETIKAI TIBBi, yak fasli genetikai inson, ki tariqi inkishofi bemorihoi irsiro meomuzad, usulhoi tashkhis, peshgiri va tabobati onhoro muayyan menamoyad.
Bakhshi asosii G. t. genetikai kliniki ast. On sababhoi paydoish, inkishof, jarayon va oqibati bemorihoi irsiro meomuzad. Genetikai kliniki neyrogenetika, dermatogenetika, oftalmogenetika, farmakogenetika va g.-ro darbar megirad.
Tamomi mardumi rui olam az yakdigar farq dorand, ba juz dugonikhoi yaktukhmae, ki nishonahoi irsii onho asosan yaksonand. Asli in gunoguniro farqiyati merosi tashkil medihad, ki dar hazorho gen va omezishhoi onho ramz (kod) mondaast. Gayr az in, ba tufayli mutatsiya, yane tahavvuloti genho (nig. Mutagenez), dar tabiat irsiyat hamesha tagyir meyobad.
Umuri peshgirkunandai tib biduni genetika nopurrayu noqis memonad, chunki tansihatii odam ba tasiri mushtaraki omilhoi irsi va muhit vobasta ast.
G. t. hamchun ilm ibt. a. 20 ba miyon omad. Avvalho sayu kushishe ba kor burda meshud, ki qonuniyati dar asosi tajriba dar rastaniho anjomyoftaro bevosita ba inson nisbat dihand. Ammo az solhoi 50-um ba tufayli tadqiqoti dar genetikai biokhimiyavi, biologiyai molekulavi, genetikai molekulavi va dig. sohahoi ilm guzaronda zarurati amiqtar omukhtani asoshoi genetikii irsiyati inson va bemorihoi irsi pesh omad. Muqarrar gardid, ki genho mujibi dar hujayrahoi har jonvar (az jumla inson) hosil shudani fermenthoi hayotan muhim, taminkunandai jarayoni tibii reaksiyahoi biokhimiyavii organizm va faoliyati mutadili on meboshand. Jarayoni nodurusti aksulamali biokhimiyavi boisi paydoishi bemoriho megardad. Sababi avvalini ikhtiloli biokhimiyavi bisyor vaqt tagyir yoftani genho ast. Boyad qayd kard, ki tagyiroti genho hamesha zud namoyon nameshavad. Bisyor genho faqat dar davrai muayyani inkishofi fardii organizm faol meboshand. Az in ru bemorii aslan irsi dar shakhsi homili geni illatnok metavonad dar miyonsoli va yo hatto dar pirsoli ba amal oyad.
Ziyoda az 2000 bemorihoi irsii inson malumand, mas., bemorihoi mubodilai moddaho, dilu ragho, shush, uzvhoi hozima, gurdaho, jigar, khun, asabu mushak, gadudhoi tarashshuhi dokhili (har guna nuqsi inkishof, ikhtiloloti masuniyat va g.).
Alomathoi bo ham monandi bemoriho hanuz manoi bemorii irsiro nadorad. Mas., atrofiya (khurd shudani hajmu andoza)-i mushakho metavonad ham nishonai miopatiya va ham nishonai kamgizoi – distrofiya boshad. Alomathoi mazkur az nigohi fiziologi shabehand, vale az jihati biokhimiyavi tafovut dorand. Tahlili daqiqi genetiki imkon medihad, ki bemorii irsi az bemorii gayriirsii alomatu nishonahoyashon monand farq karda shavand. CHunonchi, mikrosefaliya (bisyor khurd shudani andozai kosakhonai sar va mayna), ki mujibi noqisulaqli megardad, bemorii irsi ast. Vale baze doruhoe niz, ki modar dar davrai homilagi istemol kardaast, metavonand sabagori bemorii mazkur shavand. Hamchunin bemorii surkhakon, ki modar dar ogozi haml az sar guzarondaast, boisi kari, nuqsi dil va osebi chashmi tifli batn megardad, hol on ki chunin alomatho dar mavridi baze bemorihoi irsi niz ba mushohida merasand.
Baroi tashkhisi durusti bemori pesh az hama boyad donist, ki on ba kheshovandoni nazdiki bemor chi tavr meros memonad. Tartib dodani nasabnoma, ba hisob giriftani bemorii mavjuda yo bemorii tabiatan ba on nazdik dar kheshovandoni bemor baroi muayyan namudani nihodi irsii dard va darajai khatari ba farzandon meros mondani on ahamiyati bagoyat muhim dorad. Dar natijai vusat yoftani shabakai mashvaratgohhoi genetikai tibbi agar yake az volidayn giriftori in yo on bemorii irsi boshad, muqarrar namudani andozai khatari tavallud shudani kudaki bemor imkonpazir gardid.
Donistani sababhoi molekulavii bemorihoi irsi baroi tabobati samarabakhshi onho imkoniyat medihad. Odatan, dukhtur ba bemor chunin moddahoe (fermentho, vitaminho, gormonho va g.)-ro tavsiya mekunad, ki onho dar organizmi mariz hosil nameshavand yo podzahrero mefarmoyad, ki on baroi ikhroji zahr kumak merasonad.
G. t. tamoyuli irsi nisbati baze bemorihoro niz tahqiq mekunad. Mas., dar bobati mayli irsi doshtani bemorii gipertoniya, ateroskleroz, shizofreniya va bemorihoi allergi komyobihoi nazarras ba dast ovarda shudaand. Donistani in ba dukhtur imkon medihad, ki ba mariz istemoli in yo on gizoro farmoyad, parhez tain bikunad va g.
To kunun bo genhoi solim ivaz kardani genhoi illati muyassar nashudaast. CHand usuli ba jarrohi muolija namudani amrozi irsi dar marhalai tadqiq va tatbiqi amalist.