Indlela Entsha Esetshenziselwa Ukuhlola I-Down's Syndrome
I-FISH imele ukuchithwa kwe-fluorescent in- hybridization. Ukuhlolwa kwe-FISH, noma ukuhlaziywa kwe-FISH njengoba kukhulunywa ngaso ngezinye izikhathi, kuyindlela entsha ye-cytogenetic evumela ukuthi i-cytogeneticist ithole ukuthi mangaki amakhophi we-chromosome ethile ekhona ngaphandle kokuhamba kuzo zonke izinyathelo ezihilelekile ekukhiqizeni i- karyotype . Isibonelo, ukuhlaziywa kwe-FISH kungakutshela ukuthi mangaki ama-chromosomes angama-21 akhona, kodwa angeke akutshele lutho mayelana nesakhiwo salawo ma-chromosomes.
Indlela Esebenza ngayo
Ukuhlolwa kwe-FISH kuvame ukwenza ngezibonelo ezifanayo njenge-karyotype - igazi, amniocytes noma isampula ye-chorionic villi. Uhlolo lwe-FISH lwenziwe ngokusebenzisa isofthiwe ye-fluorescent ehlangene nama-chromosomes athile athile. Lezi probe ze-fluorescent zenziwe nge-DNA ethize kuma-chromosomes athile futhi zithengwe ngombala we-fluorescent. Amaseli asetshenziselwa ukuhlaziywa kwe-FISH akumele akhule noma ahlonywe (okungathatha izinsuku ezingu-7 kuya kwezingu-10), ngakho imiphumela yokuhlaziywa kwe-FISH itholakala ngokushesha kunomphumela we-karyotype.
Ngokuvamile, isampula itholakala futhi ithunyelwe ebhokisatri futhi ama-chromosomes ahlukanisiwe kwi-slide. Ama-probe asebekwa ku-slide futhi avunyelwe ukufaka ama-hybridize (noma ukuthola umdlalo wabo) amahora angaba ngu-12. Ngenxa yokuthi ama-probe akhiwe nge-DNA, azobopha "i-DNA" efana ne-chromosome yayo. Isibonelo, i-probe eyenziwe nge-DNA eqondene ne-chromosome 21 izobopha noma iyiphi i-chromosome yenombolo engu-21 ekhona.
Ngemuva kokubanjelwa (noma ukunamathela), islayidi ihlolwe ngaphansi kwe-microscope ekhethekile ekwazi ukubona izithombe ze-fluorescent. Ngokubala inani lezibonakaliso ze-fluorescent, i-cytogeneticist inganquma ukuthi zingaki i-chromosome ethile ekhona. Isibonelo, umuntu ongenawo i-Down syndrome uyoba nezimpawu ezimbili ze-fluorescent ezihambelana nama- chromosomes amabili amanani angu-21 .
Umuntu onesifo se-trisomy 21 uyoba nezimpawu ezintathu ze-fluorescent ezihambelana nama-chromosomes angama-21 azo. Ngokuvamile, i-cytogeneticists izosebenzisa i-probe yama-chromosomes ayi-13, 18, 21, i-X ne-Y. Lawa angama-chromosomes angabangela izibalo zabantu.
Ukuthola i-Down Syndrome
Nakuba engaboni isakhiwo sangempela sama-chromosomes ahlaziywe, ukuhlaziywa kwe-FISH kungakutshela ukuthi mangaki amakhophi we-chromosome ethile ekhona. E-Down syndrome, i-cytogeneticist isebenzisa ama-probes ngenombolo ye-chromosome engu-21. Uma kunezibonakaliso ezintathu ze-fluorescent ezibonwe ngaphansi kwe-microscope, ukuxilongwa kwe-Down syndrome kwenziwa.
Ukuhlolwa kwe-FISH kuhluke kanjani ku-Karyotype?
Ukuhlaziywa kwe-FISH kukutshela ukuthi ama-chromosomes athile akhona nokuthi bangaki babo abakhona. Isibonelo, ukuhlaziywa kwe-FISH okujwayelekile kuzokutshela ukuthi zingaki ama-chromosomes angu-13, 18, 21, ama-X, nama-Y angama-sampula amaminerali amniotic. Ukuhlaziywa kwe-FISH ngeke kukunikeze ulwazi mayelana nayo yonke i-chromosome futhi ngeke ikunike ulwazi mayelana nesakhiwo sangempela sama-chromosomes.
Izinzuzo
Inzuzo enkulu yokuhlaziywa kwe-FISH ukuthi inganikeza ulwazi mayelana nama-chromosomes athile ngokushesha. Isibonelo, ezinsukwini ezintathu ukuya kwezine, kungatshela ukuthi mangaki amakhophi e-chromosome enombhalo ongu-21 umuntu ongeke abe nayo.
Ngokuphambene, i-karyotype yendabuko ingathatha amasonto amabili.
Ukungalungi
Ukukhathazeka okuyinhloko kokuhlaziywa kwe-FISH kuqhathaniswa ne-karyotyping yukuthi ukuhlaziywa kwe-FISH kukunika ulwazi oluncane mayelana nawo wonke ama-chromosomes afundwayo. Isibonelo, ukuhlolwa kwe-FISH ngaphambi kokubeletha kuzokutshela ukuthi zingaki izinombolo ze-13, 18, 21, X ne-Y zikhona (okungukuthi, kungakhathaliseki ukuthi kukhona amakhophi amabili noma amathathu) kodwa ngeke ikunike ulwazi nganoma iyiphi enye i-chromosomes noma yiluphi ulwazi mayelana nesakhiwo sangempela sama-chromosomes.
Okufanele Ubuze Udokotela Wakho
- Ingabe i-laboratory oyisebenzisayo yenza ukuhlolwa kwe-FISH?
- Ingabe umshuwalense wami uhlanganisa izindleko zokuhlolwa kwe-FISH?
- Ngokwethenjelwa kanjani ukuhlolwa kwe-FISH kwe-Down syndrome?
- Kuzothatha isikhathi esingakanani ukuthola imiphumela ye-FISH (kusuka kumnio yami noma i-CVS)?
- Ingabe lebhu nayo yenza i-karyotype ephelele?
- Kuthatha isikhathi esingakanani ukuthola imiphumela ye-karyotype?
Ngaphansi
Ukuhlaziywa kwe-FISH kunenzuzo yokuhlinzeka ngolwazi olusheshayo, kodwa olulinganiselwe, mayelana nama-chromosomes e-fetus. Kuhle kakhulu ukuphendula lo mbuzo - "Ingabe ingane yami ine-trisomy 21?" Kodwa inikeza ulwazi olulinganiselwe mayelana nezinye izinto ezingavamile ze-chromosome ezifana nokuthunyelwa kanye nokususwa.
Imithombo
I-American College of Obstetricians and Gynecologists (ACOG). Ukuhlola ukukhubazeka kwe-Fetal Chromosomal. I-ACOG Practice Bulletin, inombolo 77, January 2007.
I-National Human Genome Research Institute. I-Fluorescence In Hybridization (FISH), ngo-2008.