tulanatmak janukeey sankarikaran

tulanatmak genomic sankarikaran (see. jee. etch.) hii peshi sanwardhan karanyachi aavashyakta naan thevata, sandarbh namunyachya tulanet chachani namunyachya dii. aine. aii. madheel ploydi patalichya sapeksh prat sankhya badalanche (see. aine. vhee. ess.) vishleshan karnyasathi eka aanvik cytogenetic paddhat aahe. yaa tantracha uddesh done strotanmadhun strotanmadhun done genomic dii. aine. aii. namunyanchi twarit aanee karyakshamatene tulana karane haah aahe, jeey bahutek vela jawalun sambandhit asatat, kaaran assa sanshay aahe qee tyanchyat sampoorn gunasutra kinwa up-gunasutra pradesh (sampoorn gunasutracha eka bhag) yanchya laabh kinwa hanichya drushtine farak asato. heey tantra moolatah ghan gaath aanee samanya uutinchya gunasutra purkanmadhil farkanchya mulyankanasathi vikasit kele gele hote aanee vaparale jaanare sukshmadarshakachya sankalpanedware maryadit asalelya jeemsa banding aanee fluorescence inn situ hybridisation (maase) chya adhik paramparik cytogenetic vishleshan tantranchya tulanet 5-10 megabesesache sudharit sankalpan aahe.
heey situ sankarikaranat spardhatmak pratidiptichya vaparadvare sadhya kele jaate. thodakyat, yamadhye tulana karnyasathi done strotanpasun dii. aine. aii. chey pruthakkaran, samanyatah eka chachani aanee sandarbh srot, vegvegalya ranganchya (samanyatah laal aanee hirwa) fluoroforces (fluorescent renu) pratyek dii. aine. aii. namunyache swatantra labeling, dii. aine. aii. chey vikrutikaran jenekarun teey ektech adakale asel aanee parinami done namunyanche sankarikaran 1:1 chya gunottarat gunasutranchya samanya metafage spreadmadhye, jyashi label kelele dii. aine. aii. namune tyanchya mool sthanavar bandhatil. pratidipti sukshmadarshak aanee sanganakeey softwarecha vapar karoon, done strotanmadhil gunasutratil farak olakhanyasathi pratyek gunasutrachya lambinusar bhinn rangeet pratidipti sanketanchi tulana kelee jaate. gunasutrachya vishisht bhagat chachanichya namunyachya rangachi uchch tivrata sambandhit srot namunyatil tyaa pradeshachya samagricha laabh darshavate, tarr sandarbh namunyachya rangachi uchch tivrata tyaa vishisht pradeshatil chachani namunyatil samagrichi haanee darshavate. tatasth rung (jevha fluoroforechi lebale laal aanee hiravi asatat tevha pivala) tyaa thikanchya done namunyanmadhye konatahi farak darshavat nahee.
see. jee. etch. keval asantulit gunasutra vikrutee shodhanyat saksham aahe. yache kaaran asey qee, paraspar sthanantaran, vyutkram kinwa ring gunasutra yasarkhya santulit gunasutra vikrutincha prat sankhyevar parinam hott nahee, jeey see. jee. etch. tantradnyanadvare shodhale jaate. tathapi, see. jee. etch. ekach chachanimadhye serve 46 manvi gunasutrancha shodh ghenyas aanee agadi sookshm pramanavar dekhil hatvane aanee nakkal shodhanyas anumati dete, jyamule itar peshishastriy tantrandware pudhe shodhanyasathi umedvar janukanchi olakh houu shakate.
see. jee. etch. tantranchya sanyogane dii. aine. aii. sookshm arrechya vaparadvare, shreni see. jee. etch. (aii. see. etch.) chey adhik vishisht swaroop vikasit kele gele aahe, jyamule see. aine. vhee. chey locus-buy-locus mojmap shakya hote, jyache resolution 100 kilobes itake qamee hote. heey sudharit tantra dnyat aanee adnyat paristhitinche etiology shodhanyas anumati dete.
itihas.
see. jee. etch. chya vikasat antarbhut asaleli prerana yaa vastusthitivarun udbhavali qee tyaa velee upalabdh asalelya cytogenetic vishleshanache prakar (jamesa banding aanee maase) tyanni pradan kelelya parinamanchya arth lavnyasathi aavashyak asalelya sukshmadarshakandvare tyanchya sambhavya sankalpanat maryadit hote. yavyatirikt, gamesa bandingcha arth aspasht asanyachi kshamata aahe aanee tyamule vishvasarhata qamee jhaali aahe aanee donhi tantranna uchch shram inputchi aavashyakta asate jee tapasalya jaau jaau sthanala maryadit karate.
see. jee. etch. vishleshanacha pahila ahwal calionymi aanee 1992 madhye california vidyapith, sann francisco yetheel yetheel deela hota, jyanni ghan arbudanche vishleshan karnyasathi see. jee. etch. chaa vapar keela. peshinsathi sampoorn prat kramank cariotype sthapit karnyasathi stanachya karkarogachya peshi resha aanee mutrashayachya prathamik arbudanvar tantracha thet vapar karoon tyanni heey sadhya kele. teey pravardhanasathi 16 bhinn kshetre olakhoo shakale, jyapaiki barech naveen shodh hote.
tyanantar lagechach 1993 madhye, du manoir ett all. jawaljawal samaan paddhat nondavali. lekhakanni tantra tapasanyasathi dii. aine. aii. granthalayatun done vegvegalya fluoroforces vaiyaktik manvi gunasutranchi malika rangavali aanee ektar daun syndrome kinwa tii-seela prolymphocytic leukemia tasech mutrapindachya papillary carcinoma seela linechya peshine prabhavit jhalelya rugnanpasoon genomic dii. aine. aii. varr see. jee. etch. dekhil lagoo kele. assa nishkarsh kadhanyat aala qee prapt jhalele pratidipti gunottar achook hote aanee vividh prakarchya peshinmadhil genomic dii. aine. aii. madheel farak shodhanyayogya hota aanee mhanunach see. jee. etch. heey eka atyant upayukt cytogenetic vishleshan sadhan hote.
suruvatila, see. jee. etch. tantradnyanacha vyapak vapar katheen hota, kaaran protocol eksarkhe navhate aanee tyamule visangati nirman jhaali, visheshtah detachya vyakhyetil anishchitatemule. tathapi, 1994 madhye eka punaravalokan prakashit karnyat aale jyat sahajpane samajalya kelya protocolche tapshilvar varnan kele gele aanee pratima vishleshan software vyavsayikdrushtya upalabdh karoon denyat aale, jyamule see. jee. etch. chaa jagbharat vapar karata aala.
dii. aine. aii. utpadananchya nirmitisathi microdisection aanee degenerate oligonucleotide primed polymerase cheen reaction (dii. oo. pii. see. aar.) yasarkhi naveen tantre upalabdh jhalyamule, see. jee. etch. hii sankalpana lahan gunasutranchya vikrutinvar lagoo karane shakya jhaale aanee asha prakare see. jee. etch. chey resolution sudharle gele.
arrey see. jee. etch. chee amalbajavani, jyamadhye paramparik metafage gunasutra tayar karnyaivaji dii. aine. aii. microere vaparale jaatat, solinas-tolodo aanee itaranni pudhakar ghetala. 1997 madhye tumour peshi aanee pinkle ityadicha vapar keela. 1998 madhye stanachya karkarogachya peshincha vapar karoon. heey manvi genome prakalpadvare shakya jhaale jyane sampoorn manvi genomemadhe dnyat sthanansah clone kelelya dii. aine. aii. tukadyanche granthalay tayar kele, jyache heey tukade dii. aine. aii. microerever probe mhanoon vaparale jaat hote. aata dii. aine. aii. sookshm arrever see. dii. aine. aii., genomic pii. see. aar. utpadane aanee jivanujanya krutrim gunasutra (bii. aii. see.) yasarkhya vividh utpattichya shodhancha vapar keela jaau shakato, jyat 20 lakhanparyant shodhanibandh asoo shakatat. arrey see. jee. etch. svayanchalit aahe, paramparik see. jee. etch. peksha adhik resolution (100 keey. bii. paryant) anumati dete kaaran probe metafage tayaripeksha khoopach lahan asatat, qamee pramanat dii. aine. aii. aavashyak asate, aavashyak asalyas vishisht gunasutra pradeshanna lakshya kele jaau shakate aanee aurder kele jaate aanee mhanoon vishleshan karane jalad hote, jyamule teey nidanatmak vaparasathi adhik anukool hote.
moolbhut paddhati.
metafage slide tayari.
slideveryl dii. aine. aii. haah eka sandarbh namuna aahe aanee asha prakare cariotypically samanya purush kinwa strikadoon prapt keela jaato, jaree maadee dii. aine. aii. vaparane shreyaskar aahe kaaran tyanchyakade done ex gunasutra aahet jyat purush vaay gunasutrapeksha jaast anuvanshik mahitee asate. phytohemaglutinin uttejit paridhiy rakt lymphocytescha vapar keela jaato. 1 miilii happerinized rakt 10 miilii culture madhyamat misalale jaate aanee 5 takke karbanaday oxidechya vatavaranat 37°seey. tapmanat 72 taas ubavale jaate. mitosismadhil peshinna pakadanyasathi colchisin jodale jaate, nantar peshinchi kapani kelee jaate aanee hypotonic potassium chlorides upchar kele jaatat aanee 3:1 methanol/acetic aesidmadhye sthir kele jaate.
tyanantar peshi nilambanacha eka themb sumare 30 seen. mea. chya antaravarun ethanol swachchh kelelya slidever takala pahije, heey changlya prakare kholichya tapmanat 60-70% chya aadratechya patalivar kele pahije. tappyatil vipareet sukshmadarshakacha vapar karoon drushyadvare slidesche moolyankan kele pahije, kiman peshidravya nirikshan kele pahije aanee gunasutra paraspar aachchhadit nasavet aanee 400-550 band lamb asavet aanee vegale chromatids nasavet aanee shevati chamakdar aivaji gadad disu lagtil. tyanantar slides ratri kholichya tapmanavar havetoon valavalya pahijet aanee koradepana rakhanyasathi pudhil sathavan-20°seey. varr chaar gatanmadhye silika manee kinwa nitrogens asavi. sankarikaran badaloo shakate mhanoon vegvegalya dengidaranchi chachani kelee pahije. vyavsayikdrushtya upalabdh asalelya slidescha vapar keela jaau shakato, parantu nehmi aadhi tyanchi chachani kelee pahije.
chachani ootee aanee sandarbh uutipasoon dii. aine. aii. vegale karane.
chachani kinwa sandarbh (cariotypically samanya vaiyaktik) uutinmadhun dii. aine. aii. prapt karnyasathi manak phenol nishkarshanacha vapar keela jaato, jyamadhye trius-ethylenediaminetectrate acid aanee phenolche jaleey dii. aine. aii. saha samaan pramanat sanyojan samavisht asate. yanantar aandolan aanee kendratyagikaranadvare vegale kele jaate, jyanantar jaleey thurr kadhala jaato aanee ethercha vapar karoon pudhil upchar kele jaatat aanee shevati ethanol parjanyaman dii. aine. aii. kendrit karnyasathi vaparale jaate.
vyavsayikdrushtya upalabdh asalelya dii. aine. aii. vilgikaran sanchancha vapar karoon purn kele jaau shakate jeey aakarshan stambhanvar aadharit aahet.
pradhanyane, dii. aine. aii. heey tajya kinwa gothavalelya uutinmadhun kadhale pahije kaaran heey sarvoch darjache asel, jaree aata yogya prakriyanche palan kele gele tarr formalin fixed kinwa paraphine menn embed kelele archival sahitya vaparane shakya aahe. 0.see. jee. etch. prayogasathi 5-1 microgram dii. aine. aii. purese aahe, jaree ichchit rakkam prapt jhaali nahee tarr dii. aine. aii. vadhavanyasathi dii. oo. pii. see. aar. lagoo kele jaau shakate, tathapi yaa prakaranat vishvasarhata sudharanyasathi chachani aanee sandarbh dii. aine. aii. namune yaa donhisathi dii. oo. pii. see. aar. lagoo karane mahatvache aahe.
dii. aine. aii. labeling.
nick translation vapar dii. aine. aii. laa label karnyasathi keela jaato aanee tyat dii. aine. aii. kapane aanee nantar fluefore sanyugmit pratipinde jodanyasathi (apratyaksh labeling) fluorophores (thet labeling) kinwa biotin kinwa oxygenins label kelele nucleotides badalane samavisht aahe. tyanantar chachani aanee sandarbh dii. aine. aii. yaa donhichya tukadyanchi lambi jail electroforesisdware tapasane mahatvache aahe, kaaran teey ishtatam sankarikaranasathi sankarikaranasathi shreneet asavet.
avarodhit karane.
label nasalele jeevan tantradnyan mahamandalache coat-1 dna (50 bii. pii.-100 bii. pii. lambichya punaravrutti anukramanni samruddha kelele placental dna) samanya punaravrutti dna anukram, visheshtah centromerase aanee telomeres yethe avarodhit karnyasathi jodale jaate, kaaran heey anukram, jarr aadhalale tarr, pratidipti gunottar qamee houu shakate aanee shodhanyapasun vachanyasathi laabh kinwa nuksan houu shakate.
sankaran.
label kelelya chachaniche aanee label kelelya sandarbh dnahe 8-12 micheal mishra kele jaate aanee 40 microgram coat-1 dna jodale jaate, nantar avkshepit kele jaate aanee nantar 6 microgram sankaran mishranat virghalale jaate, jyamadhye dii. aine. aii. vitalanyache tapman qamee karnyasathi 50 takke formamide asate aanee kshariy soodiyam citrate (ess. ess. see.) dravanatil prabhavi probe ekagrata 7 pii. etch. varr vadhavanyasathi 10 takke dextran sulfate asate.
slide aanee probeche vikrutikaran swatantrapane kele jaate. slide 70 takke formamide/2xssc madhye 72° seey. varr 5-10 minitansathi budavali jaate, tarr probe 10 minitansathi 80° seey. chya panyachya snanamadhye budavoon vikrut kele jaatat aanee lagech metafage slide tayarimadhye jodale jaatat. hii pratikriya nantar coverslipne jhakali jaate aanee 40°seey. varr damat kakshat done teey chaar divas thewali jaate.
tyanantar coverslip kadhali jaate aanee 5 minitanchi dhunyachi prakriya kelee jaate, teen kholichya tapmanat 2xssc vaparoon, eka 45°C varr 0.1xssc saha aanee eka kholichya tapmanat tt vaparoon. tyanantar pratikriya 10 minitansathi purv-ushmayit kelee jaate, tyanantar 60 minitanche, 37°seey. ubavan, tii. aine. tii. saha aanakhi teen 5 minite dhune aanee nantar kholichya tapmanavar 2xssc saha eka. nantar, gunasutra olakhanyasathi aanee coverslipne seal karnyasathi, dappy (0.35 microgram/miilii) saha counterstanning karnyapurvi, slide 70 takke/96 takke/100% chya ethanol malikecha vapar karoon valavali jaate.
pratidipti drushya aanee pratidipti.
dappy dagasathi yogya filters eka pratidipti sukshmadarshak tasech drushyikaranasathi vaparlele done fluorophores aavashyak aahet aanee yaa filterni fluoroforcemadhil crosstock dekhil qamee keela pahije, jase qee narrow band paas filter. sukshmadarshakapasun rangbhed naan karata eksaman prakash milane aavashyak aahe, yogya prakare sanrekhit kele gele pahije aanee eka 'yojana' prakarcha uddesh asava joou apochromatic aahe aanee x63 kinwa x100 chey aavardhan deto.
pratimeche namune patalivar kiman 0.1 micronometerchya avkashiy resolutions camera vaparoon dhwanimudran kele pahije aanee kiman 600x 600 pixelchi pratima dilee pahije. camera kiman 5 teey 10 sekandansathi pratima samakalit karnyas saksham asane aavashyak aahe, kiman 8 bitchya photometric resolutions.
pratima prakriya tappyasathi samarpit see. jee. etch. software vyavsayikdrushtya upalabdh aahe aanee parshvabhoomicha aavaj vaja karane, gunasutra mool nasaleli samagri kadhoon takane aanee vibhagane, pratidipti gunottar samanya karane, parasparsanvadi cariotyping aanee gunasutra scaling pramanit lambiparyant karane aavashyak aahe. eka "sapeksh prat sankhya cariotype" jeey kadhoon takanyache kinwa pravardhananche gunasutra kshetra sadar karate, teey anek uchch darjachya metafaceschya gunottaranchi sarasari karoon aanee tyanna ideograms plot karoon tayar kele jaate, banding namunyanvar aadharit gunasutranchi olakh patavanari aakruti. gunottar profilecha arth lavane ektar nishchit kinwa sankhyikeey maryada (aatmavishvas antar) vaparoon kele jaate. aatmavishvas antar vapartana, jevha 95 takke pratidipti gunottarat 1 nasate tevha laabh kinwa tota olakhala jaato.
atirikt notes.
dii. aine. aii. shhee sambandhit konatyahi tappyache pradushan talhanyasathi atyant kalji ghene aavashyak aahe, visheshtah chachani dii. aine. aii. saha kaaran samanya dii. aine. aii. saha namunyache pradushan parinam 1 chya jawal sarakwel, tyamule vikrutee shodhalya jaau shakat naheet. parinamanchi pushti karnyasathi maase, pii. see. aar. aanee flow cytometry prayog vaparale jaau shakatat.
tulanatmak janukeey sankarikaran.
arrey tulanatmak genomic sankarikaran (microere-aadharit tulanatmak genomic sankarikaran, matricks see. jee. etch., arrey see. jee. etch., aii. see. etch.) heey genomechya vistrut aanee uchch-resolution scalever gunasutranchya pratichya sankhyetil badal shodhanyasathiche eka aanvik cytogenetic tantra aahe. arrey see. jee. etch. rugnachya genomechi sandarbh genomachy tulana karate aanee done genomemadhil farak olakhate aanee tyamule paramparik see. jee. etch. pramanech spardhatmak pratidiptichya tattvancha vapar karoon, rugnanmadhye genomic asantulanache kshetra shodhate.
see. jee. etch. chya arrechya parichayasah, qamee resolution asalelya paramparik see. jee. etch. chee mukhya maryada door kelee jaate. see. jee. etch. madhye, metafage gunasutranchi jaaga clone kelele dii. aine. aii. tukade (+ 100-200 keey. bii.) ghetat, jyapaiki achook gunasutra sthan dnyat aahe. yamule visangati adhik tapshilvar shodhata yetat aanee shivay, badalancha thet janukeey kramavar nakasha tayar karane shakya hote.
dii. aine. aii. prat sankhya badalanchya vishleshanasathi vaparlya jaanarya itar paddhatinchya tulanet lakshaniy fayadhyansah, ere see. jee. etch. heey eka vishisht, sanvedanshil, jalad aanee uchch-utpadan tantra asalyache siddha jhaale aahe, jyamule teey nidan anuprayogansathi adhik anukool banate. hii paddhat vaparoon, dii. aine. aii. anukramanchya 5-10 kilobesachya staravar prat kramankatil badal shodhale jaau shakatat. 200 bii. pii. chya resolutionvar sanrachanatmak bhinnata (ess. vhee.) shodhanyasathi uchch-resolution see. jee. etch. (etch. aar.-see. jee. etch.) arrey dekhil achook asatat. hii paddhat ekhadyala sookshm vilopan aanee karkarog aanee gunasutra vichalananmule janm dosh yasarkhya manvi paristhitinmadhye punaravrutti honare naveen gunasutra badal olakhanyachi parvanagi dete.
karyapaddhati.
arrey see. jee. etch. heey paramparik see. jee. etch. sarkhyach tattvavar aadharit aahe. donhi tantranmadhye, sandarbh (kinwa niyantran) namunyatil dii. aine. aii. aanee chachani (kinwa rugna) namunyatil dii. aine. aii. laa done vegvegalya fluoroforces bhinn label dile jaate aanee nuclic acid lakshyanvar spardhatmakpane sankarit kelelya probe mhanoon vaparale jaate. paramparik see. jee. etch. madhye, lakshya heey eka sandarbh metafage spread aahe. see. jee. etch. shrenimadhye, hii uddishte vividh vector (jase qee backs kinwa plasmid), see. dii. aine. aii. kinwa oligonucleotidesmadhe pratirupit kelele genomic tukade asoo shakatat.
aakruti 2. heey aarey see. jee. etch. tantrache yojnabaddha vihangavalokan aahe. chachani kelya kelya namunyatil dii. aine. aii. varr laal fluorophore (cyanine 5) asey label lavale jaate aanee sandarbh dii. aine. aii. chya namunyavar hiravya fluorophore (cyanine 3) asey label lavale jaate. done dii. aine. aii. namunyanche samaan praman misalale jaate aanee anek hazar samaan antar asalelya pratirupit dii. aine. aii. tukade kinwa oligonucleotides dii. aine. aii. microeremadhye sankarit kele jaate, jeey arrever tripatyat aadhalale aahet. sankarikaranantar, pratyek sankarit fluoroforcechya sapeksh pratidipti tivrateche pariman aanee capture karnyasathi digital imaging pranalicha vapar keela jaato. pratidipti tivrateche parinami gunottar chachani aanee sandarbh genomemadhil dii. aine. aii. anukramanchya prat sankhyanchya gunottaranusar asate. jarr eka tapasanit fluorochromechi tivrata samaan asel tarr rugnachya genomechya yaa bhagat chachani aanee sandarbh namunyanmadhye dii. aine. aii. chey samaan praman asalyache samajale jaate; jarr badallele see. aay. 3: see. aay. 5 gunottar asel tarr heey tyaa vishisht genomic pradeshat rugnachya dii. aine. aii. chey nuksan kinwa laabh darshavate.
see. jee. etch. chee rachana karnyasathi tantrik drushtikon.
vividh prakarchya tantrancha vapar karoon arrey see. jee. etch. chee amalbajavani karnyat aalee aahe. tyamule, see. jee. etch. chya rachaneche kahee fayade aanee maryada nivadalelya tantravar avalambun asatat.
backs sarkhya mothya incert genomic dii. aine. aii. clonemadhun tayar kelelya arrecha vapar prarambhik paddhatinmadhye keela jaato. baxcha vapar, eka-prat badal shodhanyasathi aanee vichalanachya seema achookpane shodhanyasathi purese tivra sanket pradan karato. tathapi, vegalya back pratirupanche prarambhik dii. aine. aii. utpadan qamee aahe aanee dii. aine. aii. pravardhan tantre aavashyak aahet. yaa tantranmadhye bandhan-madhyasth polymerase sakhali pratikriya (pii. see. aar.), primerchya eka kinwa anek sanchancha vapar karoon degenerate primer pii. see. aar. aanee rolling circle emplification yancha samavesh hoto. see. dii. aine. aii. vaparoon dekhil sarani tayar kelya jaau shakatat. yaa arrey sadhya uchch avkashiy resolution detat, parantu see. dii. aine. aii. chee sankhya gunasutranvar encode kelelya janukandware maryadit asate aanee cross-sankarikaranamule tyanchi sanvedansheelata qamee asate. yamule genomechya vyapak pramanat eka prat badal shodhanyat asamarthata yete. navintam marg mhanje lahan oligonucleotides arrey shodhane. oligoche praman jawaljawal anant aahe aanee prakriya jalad, kifayatshir aanee sopee aahe. jaree oligonucleotidesmadhe eka prat badal shodhanyachi sanvedansheelata nasali taree, gunasutravar ekmekanchya shejari nakasha nakasha oligosemadhil gunottaranchi sarasari qamee jhalelya sanvedanshilatechi bharpai karoo shakate. jyaa saranjamanmadhye parasparvirodhi shodhak asatat, tyaa saranjamancha vapar karane dekhil shakya aahe, jenekarun vishisht breakpoint ughad houu shaktil.
rachana paddhati.
see. jee. etch. anuprayogansathi sookshm arrechya rachnesathi done drushtikon aaheth sampoorn genome aanee lakshyit.
sampoorn genome arrey sampoorn manvi genomela cover karnyasathi tayar kele aahet. tyamadhye bahutekda genomemadhe vyapak coverage pradan karnare clone samavisht asatat; aanee genomechya maryadet sanlagn coverage asalelya arrecha samavesh asato. sampoorn-genome arrey mukhytah sanshodhan anuprayogansathi tayar kele gele aahet aanee januk shodhat tyanche utkrusht moolya siddha kele aahe. abhootpurv sankalpanevar dii. aine. aii. laabh aanee tota shodhanyasathi genomechi tapasani karnyatahi teey khoop maulyavan aahet.
tyaa lakshyit bhagache moolyankan karnyachya uddeshane genomechya vishisht pradeshasathi (kshetransathi) lakshyit arrey tayar kele jaatat. vishisht gunasutra kinwa gunasutra vibhagacha abhyas karnyasathi kinwa sanshayaspad sookshm-vilopan syndrome kinwa subtellomeric punarrachana asalelya vyaktinmadhye vishisht dii. aine. aii. matrechya vikrutee olakhanyasathi aanee tyanche moolyankan karnyasathi yachee rachana kelee jaau shakate. asantulit cytogenetic vikrutinche nidan, anuvanshik samupadeshan, purvasoochana aanee vaidyakeey vyavasthapan yasathi vaidyakiyadrushtya upayukt parinam pradan karane heey vaidyakeey vyavharat lakshyit sookshm aareche mahattvapoorn uddisht aahe.
anuprayog.
paramparik.
paramparik see. jee. etch. chaa vapar pramukhyane gunasutri bhaganchi olakh patavanyasathi keela jaato, jeey varanvar gamavale jaatat kinwa arbudanmadhye prapt hotat, tasech karkarogache nidan aanee nidan karnyasathi keela jaato. haah drushtikon garbh aanee navjat janukanmadhil gunasutranchya vichalanancha abhyas karnyasathi dekhil vaparla jaau shakato. shivay, paramparik see. jee. etch. chaa vapar gunasutratil vikrutee shodhanyasathi keela jaau shakato aanee manvi anuvanshik vikaranshi sambandhit jatil vikrutinche nidan karnyat teey karyaksham asalyache disun aale aahe.
karkarog sanshodhanat.
ekach prakarchya arbudachya anek abhyasanmadhil see. jee. etch. deta yadruchchik nasalelya anuvanshik vichalananche susangat namune darshavito. yapaiki kahee badal vividh prakarchya ghatak arbudanmadhye samanya asalyache disun yete, tarr itar adhik vishisht arbud asatat. udaharanarth, gunasutri kshetranche gunank, 3 kyu aanee 8 kyu, tasech 8 pii, 13 kyu, 16 kyu aanee 17 pii chey nuksan, stun, andashay, prostate, mootrapind aanee mutrashayacha karkarog (aakruti) yasarkhya anek prakarchya arbudanmadhye samanya aahet. 3). vrushan karkarogamadhye 12 pii aanee ex. pii. laabh, mutrashayachya karkarogamadhye 13 kyu. 9 kyu. nuksan, mutrapindachya karkarogamadhye 14 kyu. nuksan aanee andashayachya karkarogamadhye ex. pii. nuksan yasarkhe itar badal adhik vishisht aahet aanee vividh avayavanmadhye karkarogachya vikasadarmyan karyarat asalelya adviteey nivad shaktinche pratibimb asoo shakatat. chronic lymphocytic leukemiyasarkhya bii peshichya durdhar roganchya sanshodhan aanee nidanasathi dekhil ere see. jee. etch. chaa varanvar vapar keela jaato.
gunasutra visangati.
see. aar. aay. duu chatt (see. dii. see.) heey gunasutra 5 chya chhotya hatachya anshatah vilopanamule honare lakshansamuchchay aahe. anek abhyasanni asey darshavile aahe qee paramparik see. jee. etch. heey vilopan shodhanyasathi tasech adhik jatil gunasutriy badal shodhanyasathi yogya aahe. udaharanarth, curr ityadi. (2002) eka balala manjarasarkhi radnyachi nond kelee, see. dii. see. chey vaishishtya, parantu eka aspasht cariotype aahe. see. jee. etch. chya vishleshanatun nidanala vaidyakiyadrushtya pushti pushti 5p15.3 pasoon gunasutra samagriche nuksan jhalyache ughad jhaale. heey parinam darshavtat qee paramparik see. jee. etch. heey sanrachanatmak vichalan shodhanyache eka vishvasarh tantra aahe aanee vishisht prakarananmadhye, jatil vikrutinche nidan karnyat adhik karyaksham asoo shakate.
aarey see. jee.
see. jee. etch. applications pramukhyane karkarogatil janukeey vikrutee shodhanyasathi nirdeshit kele jaatat. tathapi, manvi anuvanshik vikaranna karanibhoot asalelya dii. aine. aii. prat kramankachya vichalananchya vishleshanasathi dekhil arrey see. jee. etch. yogya aahe. mhanjech, arrey see. jee. etch. chaa vapar hatvane, vadhavane, breakpoint aanee ploydi vikrutee ughad karnyasathi keela jaato. lavkar nidan kelyane rugnala fayda hoto kaaran tyancha rognidan sudharanyasathi tyanchyavar yogya upchar aanee samupadeshan kele jaau shakate.
karkarogatil janukeey vikrutee.
karkarogamadhye anuvanshik badal aanee punarrachana varanvar hotat aanee tyachya rogjananala hatbhar lavtat. see. jee. etch. dware yaa vichalanancha shodh ghene karkarogachya mahattvachya janukanchya thikananchi mahitee pradan karate aanee nidan, karkarogache vargikaran aanee purvasuchanamadhye tyacha vaidyakeey vapar houu shakato. tathapi, anuvanshik samagriche serve nuksan rogjankiy nasate, kaaran immunoglobulin upajanakanchya punarrachanedarmyan kahee dii. aine. aii. samagri sharirikdrushtya nasht hote. alikadil abhyasat, stanachya karkarogachya undaranchya anek pratimanmadhye gunasutra vichalanache (prati-sankhya bhinnata) pradesh olakhanyasathi shreni see. jee. etch. lagoo karnyat aale aahe, jyamule maay. see.-prerit oncogenesis darmyan sahkarya karnari januke olakhali jaatat.
karkarogatil gunasutratil vikrutinchya shodhasathich navhe tarr arbudanmadhil pragativar dekhrekh thevanyasathi dekhil see. jee. etch. heey arrey lagoo kele jaau shakate. see. jee. etch. dware vikrutee olakhalya gelyanantar, metastatic aanee saumya jakhmanmadhil farak dekhil maase vaparoon shakya aahe.
submicroscopic vichalan.
pradder-viilii syndrome (pws) hii 15 kyu 11-13 samavisht asaleli eka pitrutvachi sanrachanatmak vikrutee aahe, tarr tyach pradeshatil matechya vichalanamule engelman syndrome (aii. ess.) hoto. donhi lakshananmadhye, bahutansh prakarane (75 takke) hii 3-5 embeechya pws/gambhir kshetrachya vilopanacha parinam aahet. yaa chhotya vichalanancha shodh cytogenetics kinwa paramparik see. jee. etch. vaparoon lavala jaau shakat nahee, parantu arrey see. jee. etch. vaparoon sahajpane shodhala jaau shakato. tattva visars aanee itarancha purava mhanoon. (2003) dnyat, maase-pushti kelelya microdilition syndrome asalelya teen rugnanchi tapasani karnyasathi 1 embi resolutions genome wide arrey tayar kelee, jyat pws asalelya ekacha samavesh aahe. tinhi prakarananmadhye, 1.5 teey 2.9mb paryantchya vikrutee sahaj olakhalya gelya. asha prakare, up-sukshmadarshak vichalan shodhanyasathi eka vishisht aanee sanvedanshil drushtikon mhanoon shreni see. jee. etch. darshavili gelee.
ativyapi sookshm arrey vapartana, gunasutranchya vichalanat sameel asalele breakpoint ughad karane dekhil shakya aahe.
prasutipoorv anuvanshik nidan.
jaree adyap mothya pramanavar vaparale jaanare tantra nasale taree, purv pratyaropan anuvanshik tapasanisathi eka sadhan mhanoon arrey see. jee. etch. chaa vapar hii eka vadhatya pramanat lokpriy sankalpana banat aahe. tyat undy, shukranu kinwa garbhanmadhye see. aine. vhee. aanee enupliedy shodhanyachi kshamata asate, jyamule garbh yashasviritya pratyaropan karnyat, garbhpatat kinwa daun syndrome (trisomy 21) sarkhya paristhitinmadhye apayashi tharoo shakato. yamule jeevan jeevan paristhitichya ghatana qamee karnyasathi aanee aay. vhee. eff. prayatnanchya yashache praman sudharanyasathi arrey see. jee. etch. heey eka aashadayak sadhan banate. yaa tantramadhye ekach peshitoon sampoorn genome pravardhan samavisht aahe jeey nantar arrey see. jee. etch. paddhatimadhye vaparale jaate. santulit paraspar sthanantaran kinwa robertsonian sthanantaran yasarkhya gunasutra sthanantaran asalelya jodpyanmadhye dekhil yacha vapar keela jaau shakato, jyamadhye tyanchya santatimadhye gunasutra asantulan nirman karanyachi kshamata asate.
see. jee. etch. aanee arrey see. jee. etch. chya maryada.
paramparik see. jee. etch. chaa mukhya tota mhanje mosicism, santulit gunasutra sthanantaran aanee ulatya yasarkhya prati kramank badalanshivay sanrachanatmak gunasutra vichalan shodhanyat tyachi asamarthata. see. jee. etch. keval ploydi patalichya tulanet napha aanee tota dekhil shodhu shakato. yavyatirikt, lahan punaravrutti dii. aine. aii. anukram asalele gunasutra kshetra vyaktinmadhye atyant badaloo shakatat aanee see. jee. etch. vishleshanat hastakshep karoo shakatat. tyamule, centromerase aanee telomeres sarkhya punaravrutti dna pradeshanna label naan lavalelya punaravrutti dnane (udaa.jee. see. oo. tii. 1 dii. aine. aii.) aanee/kinwa tapasanitun vagalale jaau shakate. shivay, paramparik see. jee. etch. chey nirakaran hii eka mothee vyavharik samasya aahe jee tyachya vaidyakeey anuprayoganna maryadit karate. karkarog aanee manvi anuvanshik vikar yaa donhinchya sanshodhan aanee nidanamadhye see. jee. etch. heey eka upayukt aanee vishvasarh tantra asalyache siddha jhaale asale taree, anuprayoganmadhye keval sthool vikrutee samavisht aahet. metafage gunasutranchya maryadit resolutionmule, 5-10 embipeksha lahan vichalan paramparik see. jee. etch. vaparoon shodhale jaau shakat naheet.
asha vikrutee shodhanyasathi, uchch-sankalpan tantrachi aavashyakta asate.
arrey see. jee. etch. yapaiki anek maryada paar karate. arrey see. jee. etch. uchch resolutiondware darshavile jaate, joou paramparik see. jee. etch. chya sandarbhat tyacha pramukh fayda aahe. manak resolution 1 teey 5 embi darmyan badalate, parantu atirikt pratirupansah arrey purak karoon andaje 40 keey. bii. paryant vadhavale jaau shakate. tathapi, paramparik see. jee. etch. pramane, arrey see. jee. etch. chaa mukhya tota mhanje, jyaa vichalananmule pratee sankhya badal hott naheet aanee mosicism shodhanyachya kshamatet maryadit aahet, teey shodhanyat tyachi asamarthata. mojesizamchi jee patali shodhali jaau shakate tee pratirupanchya sanvedansheelata aanee avkashiy sankalpavar avalambun asate. sadhya, andaje 50 takke peshinmadhye asaleli punarrachana hii shodhanyachi maryada aahe. asha vikrutee shodhanyasathi, aakash (varnakrameey cariotyping) kinwa maase yasarkhya itar tantrancha vapar ajunahi karava lagato.

