ICytogenetics: kuyini, kwenziwa kanjani ukuhlolwa nokuthi kwenzelwe ini

-Delile

• Yenzelwe ini
• Kwenziwa kanjani

Ukuhlolwa kwe-cytogenetics kuhlose ukuhlaziya ama-chromosomes futhi, ngakho-ke, ukukhomba ushintsho lwe-chromosomal oluhlobene nezimpawu zomtholampilo zomuntu. Lokhu kuhlolwa kungenziwa kunoma yisiphi isikhathi, noma ngabe ukhulelwe ukubheka ukuthi kungenzeka yini ukuthi kunezinguquko zofuzo enganeni.

I-cytogenetics ivumela udokotela nesiguli ukuthi babukeze i-genome, kusiza udokotela ukwenza ukuxilongwa nokwelashwa okuqondile, uma kunesidingo. Lokhu kuhlolwa akudingi ukulungiswa futhi ukuqoqwa akuthathi isikhathi eside ukwenziwa, noma kunjalo umphumela ungathatha phakathi kwezinsuku ezintathu nezingu-10 ukuthi ukhishwe ngokusho kwelabhorethri.

Yenzelwe ini

Ukuhlolwa kwe-cytogenetics yomuntu kungakhonjiswa ukuphenya ushintsho olunokwenzeka lwe-chromosomal, ezinganeni nasebantwini abadala. Lokhu kungenxa yokuthi ihlola i-chromosome, eyisakhiwo esakhiwe nge-DNA namaprotheni asatshalaliswa ngamaseli ngababili, angamabhangqa angama-23. Kusuka ku-karyogram, ehambelana nohlelo lwenhlangano ye-chromosome ngokwezimpawu zayo, ezikhishwa ngenxa yokuhlolwa, kungenzeka ukuthi kubonwe izinguquko kuma-chromosomes, njenge:

• Izinguquko eziningi, ezibonakala ngokwanda noma ukwehla kwenani lama-chromosomes, njengokuthi kwenzekani kwi-Down syndrome, lapho kutholakala khona ukutholakala kwama-chromosomes amathathu angama-21, nomuntu onama-chromosomes angama-47 esewonke;
• Izinguquko zesakhiwo, lapho kukhona ukushintshwa, ukushintshaniswa noma ukuqedwa kwesifunda esithile se-chromosome, njenge-Cri-du-Chat syndrome, ebonakala ngokususwa kwengxenye ye-chromosome 5.

Ngakho-ke, kungacelwa ukuthi kusize ekuhlolweni kwezinhlobo ezithile zomdlavuza, ikakhulukazi ama-leukemias, nezifo zofuzo ezibonakala ngezinguquko zesakhiwo noma ngokwanda noma ukwehla kwenani lama-chromosomes, njenge-Down syndrome, iPatau syndrome kanye neCri-du -Chat, eyaziwa ngokuthi i-meow syndrome noma ukukhala kwekati.

Kwenziwa kanjani

Ukuhlolwa kuvame ukwenziwa ngesisekelo sesampula segazi. Endabeni yokuhlolwa kwabesifazane abakhulelwe inhloso yabo kungukuhlola ama-chromosomes ombungu, kuqoqwa i-amniotic fluid noma namanani amancane egazi. Ngemuva kokuqoqa okokusebenza komzimba futhi akuthumele elabhorethri, amangqamuzana azolungiswa ukuze ande bese kufakwa i-inhibitor yokuhlukaniswa kwamaseli, okwenza i-chromosome isesimeni sayo esifinyaniswe kakhulu futhi ibukwe kahle.

Ngokuya ngenhloso yokuhlolwa, izindlela ezahlukahlukene zamangqamuzana zingasetshenziswa ukuthola imininingwane nge-karyotype yomuntu, okusetshenziswa kakhulu:

• Ibhendi G: inqubo esetshenziswa kakhulu kuma-cytogenetics futhi iqukethe ukusetshenziswa kwedayi, udayi weGiemsa, ukuvumela ukubonwa kwama-chromosomes. Le ndlela isebenza ngempumelelo enkulu ukuthola izinguquko zamanani, ikakhulukazi, nezakhiwo ku-chromosome, okuyindlela eyinhloko yamangqamuzana esetshenziswe kuma-cytogenetics ekuhlolweni nasekuqinisekisweni kwe-Down syndrome, ngokwesibonelo, ebonakala ngokuba ne-chromosome eyengeziwe;
• Inqubo YENHLANZI: kuyindlela ethize ebucayi futhi ebucayi, esetshenziswa kakhulu ukusiza ekuhlolweni komdlavuza, njengoba ivumela ukukhomba ushintsho oluncane kuma-chromosomes nasekuhleleni kabusha, ngaphezu kokukhomba nezinguquko zamanani kuma-chromosomes. Yize iphumelela impela, inqubo ye-FISH iyabiza kakhulu, njengoba isebenzisa ama-probe e-DNA abhalwe nge-fluorescence, edinga ukuthi ithuluzi lithathe i-fluorescence futhi livumele ukubonwa kwama-chromosomes. Ngaphezu kwalokho, kunezindlela ezifinyeleleka kalula kwi-biology yamangqamuzana evumela ukuxilongwa komdlavuza.

Ukulandela ukusetshenziswa kwedayi noma ama-probe anelebula, ama-chromosomes ahlelwe ngokosayizi, ngababili, ama-pair wokugcina ahambelana nobulili bomuntu, bese eqhathaniswa ne-karyogram ejwayelekile, ngaleyo ndlela ehlola ushintsho olungaba khona.