Inhloso Nezinyathelo Ezibandakanyekile Emcimbini We-Karyotype
Uma udokotela wakho ekhuthaze uhlolo lwe-karyotype wena noma ingane yakho, noma ngemuva kwe-amniocentesis, lokhu kuhlolwa kuhilelani? Yiziphi izimo okungenzeka ukuthi i-karyotype ihlolisise, yiziphi izinyathelo ezihilelekile ekwenzeni ukuhlolwa, futhi yini ukulinganiselwa kwayo?
Uyini Uhlolo lweKaryotype?
I-karyotype isithombe sama- chromosomes esitokisini . Ama-karyotypes angathathwa emangqamuzaneni egazi, amangqamuzana ekhanda lomntwana (kusuka ku-amniotic fluid noma i-placenta), noma amangqamuzana omnyo wesifuba.
Yiziphi Izimo Okungahle Zitholwe Ngesilingo seKaryotype?
I-Karyotypes ingasetshenziselwa ukuhlola futhi iqinisekise ukungalingani kwe-chromosomal efana ne-Down's syndrome, futhi kunezinhlobo eziningana ezehlukene zezinto ezingavamile ezingatholakala.
Enye yalezi zingu-trisomi lapho kukhona amakhophi amathathu enye yama-chromosomes kunokuba amabili. Ngokuphambene, i-monosomi iyenzeka uma ikhophi eyodwa kuphela (esikhundleni sezodwa) ikhona. Ngaphandle kwama-trisomi nama-monosomi kukhona ukukhishwa kwe-chromosome okuyingxenye ye-chromosome engekho, nokudluliswa kwe-chromosome, lapho ingxenye ye-chromosome eyodwa ifakwe kwenye i-chromosome (futhi ngokufanayo nangokudluliselwa okulinganisiwe.)
Izibonelo zama- trisomi zifaka:
- I-Down syndrome (i-trisomy 21)
- I-Edward syndrome (i- trisomy 18 )
- I-Patau syndrome (i-trisomy 13)
- I-Klinefelter's syndrome (i-XXY nezinye izinto ezihlukile) - I- Klinefelter's syndrome ibonakala ku-1 kwabangu-500 abesilisa abasha futhi kubonakala sengathi iyanda emlandweni
- I-X ye-syndrome ye-X (XXX)
Isibonelo se-monosomy sihlanganisa:
- I-Turner syndrome (X0) noma i-monosomy X - Amaphesenti angama-15 okukhubazeka ngenxa ye-Turner syndrome, kodwa le trisomy ikhona ku-1 ngo-2000 kuphela ekuzalweni okuphilayo
Izibonelo zokususwa kwe-chromosomal zifaka:
- I-Cri-du-Chat syndrome (i-chromosome engekho 5)
- Williams syndrome (i-chromosome engekho 7)
Ukudluliselwa komhlaba - Kunezibonelo eziningi zokudluliswa kwempahla okufaka phakathi i-translocation Down syndrome. Ukuthuthwa kweRobertsonian kujwayelekile, kwenzeka cishe ku-1 kubantu abangu-1000.
I-Mosaicism yisimo lapho amanye amangqamuzana emzimbeni enokungajwayelekile kwe-chromosomal ngenkathi abanye bengaboni. Isibonelo, i-mosaic Down syndrome noma i-trisomy e-mosaic 9. I-trisomy ephelele 9 ayihambisani nokuphila, kepha i-trisomy 9 yesithombe ingaholela ekuzalweni okubukhoma.
(Isibonelo sibalulekile amagama ayizinkulungwane. Funda ngokungafani phakathi kwe-translocation, i-trisomy, ne-mosaic Down syndrome .)
I-Karyotype Yenziwe Kanjani?
Kunezimo eziningi lapho i-karyotype inganconywa udokotela wakho. Lokhu kungafaka:
- Izinsana noma izingane ezinezimo zezokwelapha ezibonisa ukungavamile kwe-chromosomal engakaze itholakale.
- Abantu abadala abanamabonakaliso abonisa ukungajwayelekile kwe-chromosomal (isibonelo, amadoda ane-Klinefelter isifo angase angatholakali kuze kube yilapho esekhulile noma esekhulile.) Ezinye zezifo ezibukeka nge-trisomy mosai nazo zingase zingatholakali.
- Ukungabi nalutho - I-karyotype yezakhi zofuzo ingenziwa ngenzalo. Njengoba kuphawuliwe ngenhla, ezinye izinto ezingavamile ze-chromosomal zingase zingabonwa muntu kuze kube yilapho esekhulile. Owesifazane ophethe i-Turner syndrome noma indoda enezinto ezihlukile zikaKlinefelter angase angazi isimo kuze kube yilapho esebenzisana nokungazalwa.
- Ukuhlola okungakazalwa ngaphambi kokubeletha - Kwezinye izimo, njenge-translocation Down syndrome, isimo singase sibe nesifazana futhi abazali bangahlolwa uma ingane izalwa ene-Down syndrome. (Kubalulekile ukuthi uqaphele ukuthi iningi le-Down syndrome akuyona inkinga yefa kodwa kunomthelela wokuguquka kwesimo.)
- Ukubeletha - I-karyotype ivame ukwenza njengengxenye yokuhlolwa emva kokuzalwa komntwana.
- Amaphutha amasha ajwayelekile - I-karyotype yomzali yezinsizwa eziphindaphindiwe zinganikeza izinkomba mayelana nezizathu zalokhu kulahlekelwa okuphazamisayo okuqhubekayo. Kucatshangwa ukuthi okungajwayelekile kwe-chromosomal, efana ne-trisomy 16 yimbangela yamaphesenti angama-50 okungaziphathi kahle.
- I-Leukemia - Ukuhlolwa kwe-Karyotype kungenziwa futhi ukusiza ukuxilonga i-leukemias, ngokwesibonelo, ngokufuna i- chromosome ye- Philadelphia etholakala kwabanye abantu abane-leukemia engapheliyo noma i-acute lymphocytic leukemia.
Izinyathelo Ezibandakanyekile Esivivinyweni Se-Karyotype
Ukuhlolwa kwe-karyotype kungase kuzwakale njengokuhlolwa kwegazi okulula, okwenza abantu abaningi bazibuze ukuthi kungani kuthatha isikhathi eside ukuthola imiphumela. Lokhu kuhlolwa empeleni kuyinkimbinkimbi ngemuva kokuqoqwa. Ake sibuke lezi zinyathelo ukuze uqonde ukuthi kwenzekani ngenkathi ulindele ukuhlolwa.
1. Iqoqo lesampula
Isinyathelo sokuqala ekwenzeni i-karyotype ukuqoqa isampula. Ezinganeni ezisanda kuzalwa, isampula yegazi equkethe amangqamuzana egazi abomvu, amangqamuzana egazi amhlophe, i-serum, nezinye izinto eziphuza amanzi ziqoqwe. I-karyotype izokwenziwa emangqamuzaneni amhlophe egazini ahlukanisayo (isimo esibizwa ngokuthi i-mitosis). Ngesikhathi sokukhulelwa, isampula ingaba yi-amniotic fluid eqoqwe ngesikhathi i-amniocentesis noma ucezu lwamapulacenta eqoqwe ngesikhathi sokuhlolwa kwe-chorionic villi sampling (CVS). I-amniotic fluid iqukethe amangqamuzana esikhumba e-fetal asetshenziselwa ukudala i-karyotype.
2. Ezokuthutha KuLebhubhu
I-Karyotypes yenziwa ebhodini elithile elibizwa nge-cytogenetics lab - ibhubhu eqhuba ama-chromosomes. Akuzona zonke izibhedlela ezine-cytogenetics labs. Uma isibhedlela sakho noma isikhungo sezokwelapha singenayo i-cytogenetics laboratory yayo, isampula yokuhlola izothunyelwa ebhodini elikhethekile ekuhlaziyweni kwe-karyotype. Isampuli yokuhlolwa ihlaziywa yizobuchwepheshe be-cytogenetic eqeqeshiwe ngokukhethekile, i-Ph.D. ama-cytogeneticists, noma izakhi zofuzo zezokwelapha.
3. Ukuhlukanisa Amaseli
Ukuze uhlaziye i-chromosomes, isampula kumele iqukathe amaseli ahlukana ngokuqinile. Egazini, amangqamuzana egazi amhlophe ahlukana ngokuqinile. Amaseli amaningi ase-fetal ahlukanisa futhi. Uma isampula sifinyelela ebhodini le-cytogenetics, amangqamuzana angewona ahlukaniswe ahlukaniswe namaseli ahlukanisayo asebenzisa amakhemikhali akhethekile.
4. Amaseli akhula
Ukuze ube namaseli anele ukuze ahlaziye, amaseli ahlukanisayo akhule kumidiya akhethekile noma isiko leseli. Le mithombo iqukethe amakhemikhali namahomoni akwenza amaseli ahlukanise futhi aphindwe. Le nqubo yokukhiqiza ingathatha izinsuku ezintathu kuya kwezine ngamaseli egazi, futhi kuze kube ngesonto lama cell fetal.
5. Ukuvumelanisa Amaseli
I-Chromosomes yinkambo ende ye-DNA yabantu. Ukuze ubone ama-chromosomes ngaphansi kwe-microscope, ama-chromosomes kufanele abe kwifomu yawo ehlanganiswe kakhulu esigabeni sokuhlukaniswa kwamaseli (mitosis) eyaziwa ngokuthi i-metaphase. Ukuze uthole wonke amaseli kulesi sigaba esithile sokuhlukaniswa kwamaseli, amaseli aphathwa ngekhemikhali evimba ukuhlukaniswa kwamaseli ekugcineni lapho ama-chromosomes ahambisana khona.
6. Ukukhulula ama-Chromosomes avela kumaseli abo
Ukuze ubone lawa ma-chromosomes ahlangene ngaphansi kwe-microscope, ama-chromosomes kufanele avele kumaseli amhlophe egazi. Lokhu kwenziwa ngokuphatha amangqamuzana amhlophe wegazi ngesisombululo esikhethekile esibangela ukuba siphume. Lokhu kwenziwa ngenkathi amaseli ese-slide esincane. Ama-debris asele asuka kumaseli amhlophe egazi ahlanzwa, ashiya ama-chromosomes anamathele kwisilayidi.
7. Ukugcina ama-Chromosomes
Ama-Chromosomes ajwayelekile ngokwemvelo. Ukuze utshele i-chromosome eyodwa kwenye, idayisi ekhethekile ebizwa nge-Giemsa daye isetshenziswe kwisilayidi. Idayi ye-Giemsa idonsa izifunda zama-chromosomes ezicebile ezisekelweni ze-adenine (A) ne-thymine (T). Uma ungcwelisiwe, ama-chromosomes abukeka afana namachungechunge anezinsimbi ezikhanyayo nezimnyama. I-chromosome ngayinye inephethini ethize yezinsimbi ezikhanyayo nezimnyama ezivumela i-cytogeneticist ukutshela i-chromosome eyodwa kwenye. Ibhande ngalinye elimnyama noma elikhanyayo lihlanganisa amagciwane amaningi ahlukene.
8. Ukuhlaziywa
Uma ama-chromosome ahlanjululwa, i-slide ifakwa ngaphansi kwe-microscope yokuhlaziywa. Isithombe sithathwa ama-chromosomes. Ekupheleni kokuhlaziywa, inani lama-chromosomes lizonqunywa futhi ama-chromosomes ahlelwe usayizi.
9. Ukubala ama-Chromosomes
Isinyathelo sokuqala sokuhlaziywa ukubala ama-chromosomes. Iningi labantu linama-chromosomes angu-46. Abantu abane-Down syndrome baneama-chromosomes angu-47. Kungenzeka nokuthi abantu balahleke ama-chromosomes, angaphezu kweyodwa i-chromosome eyengeziwe, noma ingxenye ye-chromosome elahlekile noma ephindiwe. Ngokubheka inani le-chromosomes kuphela, kungenzeka ukuxilonga izimo ezahlukene ezihlanganisa i-Down syndrome.
10. Ukuhlunga ama-Chromosomes
Ngemuva kokunquma inani lama-chromosomes, i-cytogeneticist izoqala ukuhlunga ama-chromosomes. Ukuze uhlele ama-chromosomes, i-cytogeneticist izoqhathanisa ubude be-chromosome, ukubekwa kwe-centromeres (izindawo lapho ama-chromatids amabili ahlanganisiwe), nendawo nobukhulu be-G-bands. Ama-chromosomes ngababili abalwa kusukela kunkulu (inombolo 1) kuya ezincane (inombolo 22). Kunama-chromosomes angu-22, okuthiwa ama-autosomes, ahambisana ncamashi. Kukhona futhi ama-chromosomes ngokocansi, abesifazane banezinhlobo ezimbili ze-chromosomes ngesikhathi abesilisa benesidingo se-X ne-Y.
11. Ukubuka Isakhiwo
Ngaphandle kokubheka inombolo yama-chromosomes kanye nama-chromosomes ezocansi, i-cytogeneticist izophinde ibheke isakhiwo se-chromosomes ethize ukuqinisekisa ukuthi ayikho into elahlekile noma eyengeziwe kanye nokungahleleki kwezakhiwo ezifana nokudluliselwa kwezinto. Ukuthunyelwa kwenzeka uma ingxenye ye-chromosome eyodwa ifakwe kwenye i-chromosome. Kwezinye izimo, ama-chromosomes amabili ahanjiswa (ukudluliselwa okulinganiselayo) kanye nezinye izikhathi ucezu olwengeziwe lengeziwe noma alukho ku-chromosome eyodwa kuphela.
12. Umphumela Wokugcina
Ekugcineni, i-karyotype yokugcina ibonisa inani le-chromosomes, ubulili, nanoma yikuphi ukungahleleki kwesakhiwo ngamakromosomes ngamunye. Isithombe sedijithali sama-chromosomes sakhiwe nawo wonke ama-chromosomes ahlelwe yinombolo.
Izilinganiso zokuhlolwa kwe-Karyotype
Kubalulekile ukuqaphela ukuthi ngenkathi ukuhlolwa kwe-karyotype kunganika ulwazi oluningi kuma-chromosomes, lo mvivinyo awukwazi ukukutshela ukuthi ukuguqulwa kwezakhi zofuzo, njengalezo ezibangelwa i- cystic fibrosis , zikhona. Umeluleki wakho wezakhi zofuzo angakusiza uqonde kokubili ukuthi izivivinyo ze-karyotype zingakutshela nokuthi zingenzani. Kudingeka izifundo ezengeziwe ukuze kuhlolwe indima engaba khona yokuguqulwa kwezakhi zofuzo ezifweni noma eziphusheni.
Kubalulekile ukuqaphela ukuthi ngezinye izikhathi ukuhlolwa kwe-karyotype kungase kungakwazi ukubona ezinye izinto ezingavamile, njengokungathi uma ubuciko be-placental bukhona.
Ikusasa
Ngesikhathi samanje, ukuhlolwa kwe-karyotype ngesikhathi sokubeletha kuyingozi kakhulu, kudinga amniocentesis noma isampuli ye-chorionic villus. Izifundo ziyaqhubeka nokuhlola i-DNA engenawo esampula egazini legazi njengendlela ehlukile engavamile yokuxilongwa kokubeletha kokubeletha kokubeletha ebusweni.
Ngaphansi kokulinda imiphumela yakho ye-Karyotype
Ngesikhathi ulinde imiphumela yakho ye-karyotype ungase ube nomuzwa wokukhathazeka kakhulu, futhi isonto noma amabili kuthatha ukuthola imiphumela ingazizwa njenge-eons. Thatha leso sikhathi ukuthembela kubangani nomndeni wakho. Ukufunda ngezinye zezimo ezihlobene nama-chromosomes angavamile kungase kube usizo. Yize izimo eziningi ezitholakale zinekaryotype zingabhubhisa, kunabantu abaningi abaphila nalezi zimiso abanesimo esihle kakhulu sokuphila.
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