I-Tech Tech entsha esetyenziselwa ukuchonga i-Down's Syndrome
I-FISH imele i-fluorescent in hybridation in situ . Uvavanyo lwe-FISH, okanye uhlalutyo lwe-FISH njengoko kuthethwa ngamanye amaxesha, inqubo entsha ye-cytogenetic evumela ukuba i-cytogeneticist iqinisekise ukuba mangaphi iikopi ze-chromosome ekhoyo ngaphandle kokuhamba kuzo zonke iimanyathelo ezibandakanyekayo ekuveliseni i- karyotype . Umzekelo, uhlalutyo lwe-FISH lunokukuxelela ngokukhawuleza ukuba zingaphi i-chromosomes ezingama-21 ezikhoyo, kodwa ayikwazi ukukuxelela nantoni na ngesakhiwo saloo ma-chromosomes.
Ingaba isebenza kanjani
Uvavanyo lwe-FISH lwenziwa rhoqo kwiisampuli ezifanayo njengekaryotype - igazi, amniocytes okanye isampuli ye-chorionic villi. Uvavanyo lwe-FISH lwenziwa ngokusetyenziswa kweprojekthi ye-fluorescent ebopha kwii-chromosomes ezithile ezithile. Ezi probes ze-fluorescent zenziwe nge-DNA ezikhethekileyo kuma-chromosomes athile kwaye zixutywe ngedayi ye-fluorescent. Iiseli ezisetyenziselwa uhlalutyo lwe-FISH akumele zikhule okanye zihlonywe (ezinokuthatha iintsuku ezi-7 ukuya kwi-10), ngoko ke iziphumo zohlalutyo lwe-FISH ziyafumaneka ngokukhawuleza kuneziphumo zekaryotype.
Ngokuqhelekileyo, isampuli ifunyenwe kwaye ithunyelwe kwi-laboratory kwaye i-chromosomes iyodwa kwi-slide. Iiprogram zifakwe kwisilayidi kwaye zivunyelwe ukuba zihlambulule (okanye zifumane umdlalo wazo) malunga neeyure eziyi-12. Ngenxa yokuba iinkqubo zenziwe ngeDNA, ziya kubopha kwi "DNA" efanayo yechromosome yazo. Ngokomzekelo, iprojekthi eyenziwe nge-DNA ecacileyo kwi-chromosome 21 iya kubopha nayiphi na i-chromosome yenombolo yesi-21 ekhoyo.
Emva kokuxubusha (okanye ukunamathela), isilayidi ihlolwe phantsi kwe-microscope ekhethekileyo ekwazi ukubona imifanekiso ye-fluorescent. Ngokubala inani lezibonakaliso ze-fluorescent, i-cytogeneticist inokumisela ukuba mangaphi i-chromosome ethile. Ngokomzekelo, umntu ongenayo i-Down syndrome uya kuba nemiqondiso emibini ye-fluorescent ehambelana nama- chromosomes angama-21 ayo .
Umntu onesifo se-trisomy 21 uya kuba nemiqondiso emithathu ye-fluorescent ehambelana nama-chromosomes amathathu angama-21. Ngokuqhelekileyo, i-cytogeneticists izakusebenzisa iiprogram kwi-13, 18, 21, i-X kunye ne-Y-chromosomes. Lawa ma-chromosomes angabangela iimeko zokuhlaselwa ngabantu.
Ukuchonga i-Down Syndrome
Nangona ingabhekanga kwisakhiwo esicwangcisiweyo se-chromosomes, uhlalutyo lwe-FISH lunokukuxelela ukuba zininzi iikopi ze-chromosome ethile. Kwi-Down syndrome, i-cytogeneticist isebenzisa iiprobesome ngenombolo ye-chromosome yesi-21. Ukuba kukho izibonakaliso ezintathu ze-fluorescent ezibonwe phantsi kwe-microscope, ngoko ukuxilongwa kwe-Down syndrome kwenziwa.
Uvavanyo lweentlanzi luhluke njani kwiKaryotype?
Uhlalutyo lwe-FISH lukuxelela nje ukuba i-chromosomes ethile ikhona kunye nokuba bangaphi babo abakhona. Umzekelo, uhlalutyo lwe-FISH luya kuxela ukuba zininzi ezili-13, 18, 21, i-X kunye ne-y chromosomes zikhoyo kwisampuli yamanzi. Uhlalutyo lwe-FISH aluyi kukunika ulwazi malunga nayo yonke i-chromosome kwaye akuyi kukunika ulwazi malunga nesakhiwo esithile sama-chromosomes.
Inzuzo
Uluhlu oluphambili lokuhlalutya i-FISH kukuba lunokunika ulwazi malunga nama-chromosomes athile ngokukhawuleza. Ngokomzekelo, kwiintsuku ezintathu ukuya kwezine, inokuxelela ukuba zingaphi iikopi ze-chromosome engama-21 umntu othile.
Ngokwahlukileyo, i-karyotype yendabuko inokuthatha iiveki ezimbini.
Iingxaki
Ingxaki engundoqo yokuhlalutya kwe-FISH kuthelekiswa nekaryotyping kukuba ukuhlalutya kwe-FISH kukunika ulwazi oluncinane malunga nazo zonke i-chromosomes ezifundiswayo. Umzekelo, uvavanyo oluqhelekileyo lwe-FISH test luza kukuxelela ukuba zininzi iinombolo ze-13, 18, 21, ii-X kunye ne-Y (oko kukuthi, ingaba kukho iikopi ezimbini okanye ezintathu) kodwa akuyi kunika nayiphi na ingcaciso malunga nayiphi na enye i-chromosomes okanye nayiphi na ingcaciso malunga nesakhiwo esithile sama-chromosomes.
Yintoni ongayibuza uDokotela wakho
- Ngaba ibhubhoratri oyisebenzisayo ukuhlola i-FISH?
- Ingaba i-inshurensi yam ikhupha iindleko zokuhlola i-FISH?
- Unokwethenjelwa njani uvavanyo lwe-FISH lwe-Down syndrome?
- Kuya kuthatha ixesha elingakanani ukufumana iziphumo ze-FISH (ukusuka kum amoo okanye kwiCVS)?
- Ingaba lebhu iya kwenza ikaryotype epheleleyo?
- Kuthatha ixesha elingakanani ukufumana iziphumo zekaryotype?
Okukwintsusa
Uhlalutyo lwe-FISH lunenzuzo yokubonelela ngokukhawuleza, kodwa kunqongophele ulwazi, malunga nama-chromosomes e-fetus. Kuhle kakhulu ukuphendula umbuzo - "Ngaba umntwana wam unayo i-trisomy 21?" Kodwa unikezela ngolwazi oluchanekileyo malunga nezinye izinto ezingekho phantsi kwe-chromosome ezifana nokuthunyelwa kunye nokutshintshwa .
Imithombo
Ikholeji yase-American College of Obstetricians kunye neGynecologists (ACOG). Ukuhlola i-Fetal Chromosomal engafanelekiyo. I-ACOG Yenza i-Bulletin, inombolo 77, uJanuwari 2007.
I-National Human Genome Research Institute. I-Fluorescence In Hybridation Situation (I-FISH), ngo-2008.