I-Chromosomes iqukethe ulwazi lwezakhi zohlobo lwezakhi zofuzo. I-nucleus yeseli ngayinye yomuntu, ngaphandle kweqanda kanye nesidoda, iqukethe ama-chromosomes angu-46, okwenza amaphuzu angu-23. Enye i-chromosome ngayinye ngayinye isuka kumama, kanti enye isuka kubaba. Kuzo zombili zobulili, ama-chromosomes angama-22 kwangu-23 afanayo, kuphela ama-chromosomes ocansi ehlukile. Abesifazane bane-X-chromosomes amabili (XX), futhi emadodeni kukhona eyodwa X- neyodwa Y-chromosome (XY). Ngenxa yalokho, isethi evamile ye-chromosomes (karyotype) yowesilisa ngu-46, i-XY, nowesifazane-46, i-XX.
Okungajwayelekile kwe-Chromosomal
Uma iphutha livela ngesikhathi sokuhlukaniswa kwamaseli, lapho i-oocyte ne-spermatozoa zakhiwa khona, kuvela ama-germ cells anomonakalo, okuholela ekuzalweni kwenzalo nge-chromosomal pathology. Ukungalingani kwe-Chromosomal kungaba kokubili nokulinganisa nokuhlelekile.
Ukuthuthukiswa kobulili bomntwana
Ngaphansi kwezimo ezijwayelekile, ukuba khona kwe-Y-chromosome kuholela ekuthuthukiseni kwe-fetus yesilisa, kungakhathaliseki ukuthi inani le-X-chromosomes, nokungabi khona kwe-Y-chromosome - ekuthuthukiseni i-fetus yesifazane. I-anomalies yama-chromosomes ocansini anethonya elincane elilimazayo ekuziphatheni komuntu ngamunye (phenotype) kunezingqinamba zama-autosomal. I-Y-chromosome iqukethe inani elincane lezakhi zofuzo, ngakho amakhophi ayo engeziwe anethonya elincane. Bobabili amadoda nabesifazane badinga ukuba khona kwe-chromosome eyodwa eyodwa esebenzayo ye-X. Ama-X-chromosomes angaphezu kokuvamile ayasebenza. Le ndlela iyanciphisa umphumela wama-X-chromosomes angavamile, ngoba amakhophi angavamile futhi ahlelekile akhiqizwa, eshiya i-chromosome eyodwa ejwayelekile ye-X "esebenzayo". Noma kunjalo, kunezakhi zofuzo ezithile kwi-X chromosome ezigwema ukungasebenzi. Kukholelwa ukuthi ukutholakala kwamakhophi amabili noma ngaphezulu kwalezi zakhi zofuzo kuyimbangela ye-phenotypes engavamile ehambisana nokungalingani kwama-chromosomes ocansini. E-laboratory, ukuhlaziywa kwe-chromosome kwenziwa ngaphansi kwe-microscope elula ekukhuliseni okuphindwe izikhathi ezingu-1000. Ama-chromosomes abonakala kuphela uma iseli lihlukaniswe ngamaseli amabili wezintambo ezifanelwe ngokofuzo. Ukuze uthole ama-chromosomes, amaseli wegazi asetshenziselwa ukuthi ahlakulelwe endaweni ekhethekile ecebile izakhi. Esikhathini esithile sokuhlukana, amangqamuzana aphathwa ngesisombululo esibangela ukuba bavule, okuhambisana "nokungahlukanisi" nokuhlukanisa ama-chromosomes. Amaseli abese abekwa kwi-slide ye-microscope. Njengoba zoma, i-membrane yeseli ihlukana nokukhululwa kwama-chromosomes kuya endaweni yangaphandle. Ama-Chromosomes anemibala ngendlela yokuthi ngamunye wabo wabonakala ama-discs alula futhi asemnyama (amaqoqo), umyalelo oqondile othize ngamunye. Ukuma kwama-chromosomes kanye nemvelo yama-discs kuhlolisiswa ngokucophelela ukuze kutholakale i-chromosome ngayinye futhi kubone ukuthi kungenzeka yini ukuthi kukhona okungahle kwenzeke. Izimo eziphuthumayo zenzeka uma kunesidingo noma ngokweqile kwama-chromosomes. Amanye ama-syndromes ahlakulela ngenxa yeziphambeko ezinjalo anezibonakaliso ezicacile; ezinye zivame ukungabonakali.
Kunezinhlobo ezingavamile eziyingxenye ezine ze-chromosomal eziyinhloko, okuyilowo nalowo ohlotshaniswa nesifo esithile: 45, i-X-Turner syndrome. 45, X, noma ukungabikho kwe-chromosome yesibili yocansi, yi-karyotype ejwayelekile kunazo zonke ku-Turner's syndrome. Abantu abane-syndrome banezobulili zesifazane; ngokuvamile lesi sifo sitholwa ngesikhathi sokuzalwa ngenxa yezici ezinjalo ezifana nezikhumba esikhunjeni entanyeni, ukuvuvukala kwezandla nezinyawo nesisindo somzimba esincane. Ezinye izimpawu zifaka isifushane esifushane, intamo emifushane enezintambo ze-pterygoid, isifuba esibanzi esinamaphiko atholakala kakhulu, ukukhubazeka kwenhliziyo nokungahleleki okungajwayelekile. Iningi labesifazane abane-Turner's syndrome ayinyumba, abanakho ukuya esikhathini futhi abahlaziyi izici zobunikazi zesibili, ikakhulukazi izigulane ezincelisayo. Cishe zonke iziguli, zinezinga elivamile lokuthuthukiswa kwengqondo. Isigameko se-Turner syndrome siphakathi kwabangu-1: 5000 no-1:10 000 besifazane.
■ 47, XXX - i-trisomy ye-X chromosome.
Cishe 1 ku-1000 abesifazane bane-karyotype 47, XXX. Abesifazane abanalesi sifo bavame ukude futhi bancane, ngaphandle kokukhubazeka okungokwemvelo. Kodwa-ke, bavame ukwehla kwi-intelligence factor ngezinkinga ezithile ekufundeni nasekuziphatheni. Abaningi besifazane abane-trisomy X-chromosomes bayakhula futhi bayakwazi ukuba nezingane ezineqoqo elivamile lama-chromosomes. I-syndrome ayitholakali ingabonwa ngenxa yokubonakaliswa okubonakalayo kwezici ze-phenotypic.
■ 47, i-XXY - i-Klinefelter's syndrome. Cishe 1 ku-1 000 amadoda ane-Klinefelter syndrome. Amadoda ane-karyotype yama-47, i-XXY ibonakala ejwayelekile ngesikhathi sokuzalwa futhi esemncane, ngaphandle kwezinkinga ezincane ekufundeni nasekuziphatheni. Izimpawu ezibonakalayo zibonakala ngesikhathi sokukhulelwa futhi zibandakanya ukukhula okuphezulu, amaculezi amancane, ukungabi nalutho lwe-spermatozoa, futhi ngezinye izikhathi ukuthuthukiswa okwanele kwezici zesondo zobulili ezincane nezigulane ezincelisayo.
■ 47, i-XYY - i-XYY syndrome. I-Y chromosome eyengeziwe ikhona kumuntu oyedwa ku-1 000 amadoda. Amadoda amaningi ane-XYY syndrome abukeka ejwayelekile, kodwa akhula kakhulu futhi aphansi kakhulu ohlakaniphile. I-Chromosomes inomumo ibukeka ifana ne-X futhi inezingalo ezimbili ezifushane nezinhlangothi ezimbili. Okujwayelekile kwi-Turner syndrome yizona ezihlukumezayo ezilandelayo: i-isochromosome engaleni ende. Ngesikhathi ukwakhiwa kwamaqanda noma i-spermatozoa, ukuhlukaniswa kwama-chromosomes kwenzeka, ngokuphula ukwehluka kwe-chromosome enezigaxa ezimbili ezide nokungabikho okuphelele kwama-chromosomes amancane kungavela; bhala i-chromosome. Yakhiwa ngenxa yokulahlekelwa kwemikhawulo yezingalo ezimfushane nezinde kakhulu ze-X chromosome nokuxhuma kwezingxenye ezisele kwendandatho; ukususa (ukulahlekelwa) kwengxenye yesikhashana esifushane nge-one yama-X chromosomes. Ama-anomalies engxenyeni ende ye-X chromosome ngokuvamile ibangela ukungasebenzi komsebenzi wokuzala, isibonelo, esikhathini sokuqala sokuya esikhathini sokuqala.
Y-i-chromosome
Isakhi esithinta ukuthuthukiswa kombungu wesilisa sisekhondeni elincane le-chromosome Y. Ukususwa kwesandla esifushane kuholela ekusungulweni kwe-phenotype yesifazane, ngokuvamile ngezinye izibonakaliso ze-Turner's syndrome. I-Genesini ehlombe elide libhekene nokuzala, ngakho-ke noma yikuphi ukukhipha lapha kungahambisana nokuhlukunyezwa kwabantu besilisa.