Njira Yatsopano Yogwiritsira Ntchito Kufufuza Matenda Aakulu
NTHAWI imayimira kutuluka kwa fulorosenti in situ hybridation. Kuyeza nsomba, kapena kusakanizidwa kwa nsomba monga momwe nthawi zina imatchulidwira, ndi njira yatsopano yomwe imathandiza kuti katswiri wa cytogeneticist apeze makope angapo a chromosome omwe alibepo popanda kudutsa njira zonse zopangira karyotype . Mwachitsanzo, kusakanizidwa kwa nsomba kungakuuzeni ma chromosome angapo omwe alipo, koma sangakuuzeni chilichonse chokhudza ma chromosomes.
Momwe Ikugwirira Ntchito
Kuyeza nsomba kumachitidwa pa zitsanzo zomwezo monga karyotype - magazi, amniocytes kapena chorionic villi chitsanzo. Kuyeza kwa nsomba kumagwiritsidwa ntchito pogwiritsa ntchito pulogalamu ya fulorosenti yomwe imamangiriza ma chromosomes ena. Mapulogalamu awa a fulorosenti amapangidwa ndi DNA yeniyeni ya ma chromosomes ena ndipo amapezeka ndi dawuniloseti. Maselo ogwiritsidwa ntchito mu kufufuza kwa nsomba sayenera kukula kapena kukwezedwa (zomwe zingatenge masiku 7 mpaka 10), kotero zotsatira za kusaka kwa nsomba zimapezeka mofulumira kuposa zotsatira za karyotype.
Kawirikawiri, nyemba zimapezeka ndipo zimatumizidwa ku labotore ndipo ma chromosome amakhala paokha. Ma probes amaikidwa pazithunzi ndipo amaloledwa kuti awononge (kapena kupeza machesi) kwa maola pafupifupi 12. Chifukwa chipangizocho chimapangidwa ndi DNA, amatsatira DNA "yofanana" ya chromosome yawo. Mwachitsanzo, kafukufuku wopangidwa ndi DNA yokhudzana ndi chromosome 21 idzamangiriza chromosome ya nambala 21 imene ilipo.
Pambuyo pa kusakanizidwa (kapena kumamatira), chojambulacho chikufufuzidwa pansi pa makina oonera magetsi omwe amatha kuona zithunzi zowonongeka. Powerenga chiwerengero cha zizindikiro za fluorescent, katswiri wa cytogeneticist angadziwe kuti ndi angati a chromosome omwe alipo. Mwachitsanzo, munthu wopanda matenda a Down syndrome adzakhala ndi zizindikiro ziwiri za fulorosenti zofanana ndi ma chromosome awo awiri.
Munthu yemwe ali ndi trisomy 21 adzakhala ndi zizindikiro zitatu za fulorosenti zomwe zikugwirizana ndi ma chromosome awo atatu. Kawirikawiri, maginito a cytogeneticists amatha kugwiritsa ntchito ma probes pa 13, 18, 21, X ndi Y chromosomes. Awa ndi ma chromosome omwe angabweretse mavuto a anthu.
Kuzindikira Down Syndrome
Ngakhale kuti sichiyang'ana momwe mapangidwe a chromosomu akuyendera, kufufuza kwa nsomba kungakuuzeni kuchuluka kwa ma chromosome omwe alipo. Mu Down syndrome, cytogeneticist amagwiritsa ntchito probes kuti chromosome ya nambala 21. Ngati pali zizindikiro zitatu zowonongeka zomwe zimawoneka pansi pa microscope, ndiye kuti matenda a Down syndrome amapangidwa.
Kodi Nsomba zimayesa bwanji kusiyana ndi Karyotype?
Kusanthula nsomba kukungokuuzani kuti ma chromosome ena alipo ndipo ndi angati a iwo omwe alipo. Mwachitsanzo, kafukufuku wa FISH angakufotokozereni kuti ndi 13, 18, 21, X ndi Y chromosomes omwe alipo mu chitsanzo cha amniotic. Kusanthula kwa nsomba sikudzakupatsani chidziwitso cha chromosome iliyonse komanso sikudzakupatsani chidziwitso chokhazikika cha ma chromosome.
Phindu
Chofunika kwambiri cha kufufuza kwa nsomba ndikuti akhoza kupereka zambiri zokhudza ma chromosomes mwamsanga. Mwachitsanzo, masiku atatu kapena anai, amatha kufotokoza makope angapo a chromosome angapo omwe ali ndi winawake.
Mosiyana ndi zimenezi, karyotype yachikhalidwe imatha kutenga masabata awiri.
Kuipa
Kusokoneza kwakukulu kwa kafukufuku wa nsomba poyerekeza ndi karyotyping ndikuti kusakanizidwa kwa nsomba kukupatsani zambiri zochepa za ma chromosomes omwe akuphunziridwa. Mwachitsanzo, kafukufuku wa nsomba zapakati pa nthawi yobereka angakuuzeni kuti ndi angati ma nambala 13, 18, 21, X ndi Y chromosomes alipo (mwachitsanzo, kaya pali makope awiri kapena atatu) koma sangakuuzeni za chromosomes yina iliyonse kapena zowonjezereka za dongosolo lenileni la ma chromosomes.
Zimene Muyenera Kufunsa Dokotala Wanu
- Kodi labotale yomwe mumagwiritsa ntchito imayezetsa kuyezetsa FISH?
- Kodi inshuwalansi yanga imabweretsa mtengo wa kuyesa kwa FISH?
- Kodi ndizodalirika bwanji kuyesa kwa FIV kwa matenda a Down?
- Ndizitenga nthawi yayitali kuti atenge zotsatira za FISH (kuchokera ku amnio kapena CVS)?
- Kodi labu ikuchitanso karyotype yeniyeni?
- Zimatenga nthawi yaitali bwanji kuti mutenge zotsatira za karyotype?
Pansi
Kusanthula kwa nsomba kuli ndi ubwino wopereka mofulumira, koma moperewera, zokhudzana ndi ma chromosomes a mwana. Ndi bwino kwambiri kuyankha funso - "Kodi mwana wanga ali ndi trisomy 21?" Koma amapereka zambiri zokhudza zina zowonongeka monga chithunzithunzi ndi kuchotsedwa.
Zotsatira
Kalasi ya American of Obstetricians ndi Gynecologists (ACOG). Kuyeza kwa Fetal Chromosomal Zovuta. ACOG Practice Bulletin, nambala 77, January 2007.
National Human Genome Research Institute. Fluorescence In Situation Hybridization (Nsomba), 2008.