Karyotypes - ke .... Uphi lwahlolwa ukuze karyotype?

Abantu ngokuvamile ukudida amagama abaqondi umehluko phakathi syndromes nezifo chromosomal zofuzo. Lemigomo pathologies ezahlukene. Kulesi sihloko uzofunda ukuthi karyotype, uyini isici chromosomal iziyaluyalu.

Lisho ukuthini igama elithi "karyotype"?

Karyotype - inhlanganisela wama-chromosomes ezithile. izifundo Cytogenetic ngokuya eliningi yabo kanye nesakhiwo kwenziwe ngasiphi yobudala, kanye ukuphila kwabo konke. Yini kungaba azimisele kusukela chromosome kulolu cwaningo:

1. Umumo kanye nosayizi.
2. ehlombe obuphelele.
3. Ukuba khona nokuminyaniseka ezengeziwe.
4. telomere wendawo.

izinhlobo karyotypes

Kuzo zonke izinhlobo zama-eziphilayo, kuhlanganise nabantu, has karyotypes ezahlukene. Kuyinto inhlanganisela yazo zonke izimfanelo chromosome, okwakhiwa kwalo inikeza ukusebenza evamile umuntu ophilayo emhlabeni ngamunye. Karyotype kuyinto:

1. Lezi sici kuphela zezinhlanzi.
2. Ngamunye - ngabanye ejwayelekile.

karyotype ovamile wobuntu

Izifo ephelezelwa izinguquko sokugembula, ngokuthi chromosomal. Ufuzo, ukutadisha izici zabo futhi isakhiwo. Ngo-chromosomes abajwayelekile (karyotype) siqukethe izicucu 46. Kulendlela yokubhala kunezinhlobo ezimbili. Sex Ama-chromosomes e eziqukethwe isamba 2 izicucu. Labo abasele abanga-22 ngazimbili - asexual, bebizwa "autosomes."

Ngo abesifazane, ama-chromosome ubulili ziboniswa yebhangqa XX (chromosome amabii ezinkulu) kanye nabesilisa - XY (esisodwa esikhulu futhi ophansi). Kulesi sisekelo, karyotype esivamile lapho isigamu enhle lwesintu has 46XX ifomula, futhi amadoda - 46XY. Noma yimuphi ngeziphambeko kusukela lezi amafomula okukhulu kombungu ahlukahlukene, kombungu, yisisu, ukungazali, kanye nabanye.

karyotype

Karyotype ukuhlaziywa kwenzeka ngesikhathi isigaba of cell division, lapho Ubukhulu wabo washintsha. Phakathi nale nkathi, zitholakale ukubonwa. Tadisha ku karyotypes kwenziwa inqubo staining akhethekile cwaningo okwalandela lezakhi zofuzo microscope ukukhanya. Le ndlela ivumela ukuba sibone isayizi shape, isakhiwo yemizimba, kanye nokuminyaniseka samabanga aphansi noma futhi inhomogeneity kumasayithi. yamazwe ngamazwe ukuqokwa uhlelo kwakuhloselwe zibukeke ukuchaza ushintsho chromosome. Okokuqala, ucacise inani (izinombolo) bese kugujwa zazo - ngokocansi noma autosomes, futhi okuthunyelwe elilandelayo - ke izici (ikakhulukazi ehlombe obuphelele).

Zonke izithombe izithombe ngesibonakhulu ukuze enze izinguquko, futhi isiqalo nesigcino izisebenzi ekugcineni yakhiwa isithombe esiphelele. Kubalulekile ukuthi uhlolwe i-karyotypes, kuyokusiza ukukhomba zokugula oluhlukile kusaqalwa lokuzalwa nokuthuthukiswa umbungu. Phela, ithinta kokuzalwa umntwana ophile.

Nazi izinhlobo zokuhlolelwa karyotype

Kukhona 2 izinhlobo izifundo phezu karyotype:

1. Ukunqunywa karyotype e leukocyte. Lolu cwaningo olwenziwa kubantu abadala lokuthola noma ngaphandle chromosomal kwezinso. Phela, uma kuqinisekisiwe, kungase avele ezazizofika isifo esidluliselwa ngofuzo. Ngenxa yalesi ukuhlaziywa, isiguli ngizodabula igazi karyotype.
2. cwaningo kumuntu okhulelwe. Lokhu kuhlaziya wenziwa utero ukuhlonza kwezinso chromosomal ku-fetus. Kubalulekile ukuba abazali benze ukuhlaziywa, hlola karyotype. Intengo ke, nakuba bedangele, kodwa sidinga imali bese ngenza ucwaningo. Lapho abanye imiphumela ukuhlaziywa kuboniswe ukukhipha izisu, njengoba zokugula fetus kungenzeka ukuthi awahambisani ukuphila noma esikhathini esizayo kuzoletha esindayo, nemiphumela ungalungiseki.

Ubani okufanele zihlolelwe karyotype?

Emazweni amaningi, karyotype kungokudingekayo emshadweni. Kusuke kufanele kube njalo, ngoba noma yimuphi umuntu angase ashintshe isakhiwo chromosome, okuyinto akuphazamisi impilo yakhe. Kodwa lokhu singenzeka kuphela uma uhlela ukukhulelwa.

Njengoba kunjalo nge ukulethwa nolunye uvivinyo, kunezinkomba zokuthi isihlobo kanye ngokuphelele incazelo. Isigaba sokuqala sihlanganisa:

1. Ukuba khona isifo esidluliselwa ngofuzo kwelinye owakwakhe.
2. yisisu njalo.
3. Ukuba ingane nge isifo esidluliselwa ngofuzo.
4. Age of the okhulelwe umama noma ukuhlela sokukhulelwa abesifazane oneminyaka engaphezu kwengu-35.
5. Imiphumela emzimbeni yezici ezihlukahlukene pathogenic ezifana ngemisebe, amakhemikhali, njll
6. Ukwephula ukuthuthukiswa ngokobulili.

izinkomba Isihlobo for kwezidingo on karyotypes - lokhu onesimo ozikhethela. Kuhlatiya ezimweni ezinjalo kuyatuseka ukuba kudlule.

Yini ongazithola ngesikhathi lihlaziya karyotype?

Ukudlulisa yalolu cwaningo, singafunda okuningi mayelana nempilo yabo zofuzo. Esokuqala futhi okuhle kunakho konke - ke kusengaphambili kuyinkolelo yokuthi umuntu enempilo. Noma iluphi ushintsho ebaleni karyotype wathi ngeziphambeko kusukela kuyinsakavukela. Lolu hlobo locwaningo kuzosiza ukwazi ukuthi uzodlala:

1. Izimbangela kwempilo ezinganeni, ezifana ukubambezeleka zentuthuko, abakhubazekile bokusungula, ukumisa kwesikhathi ukukhula kanye nabanye.
2. Ukuze uthole ukuthi izingozi yokuzalwa inzalo nge nezifo ngenxa yezakhi zofuzo.

Ngaphezu kwalokho, lokhu ukuhlaziywa Kusenza sikwazi ukuzwa ukuthi ezihlukahlukene nezifo chromosomal. kuthiwa Kukhona ifomula, okungukuthi syndromes karyotypes ezifana:

1. Down Syndrome. Lesi sifo ubumbe esibelethweni 47 Ama-chromosomes e kamama. Ngo 21 imibhangqwana uthole iyunithi ezengeziwe, okuyinto unomthwalo sifo.
2. Polysomes e X-chromosome.
3. Patau syndrome.
4. ukukhubazeka abahlukahlukene.
5. Cat ukukhala syndrome nabanye.

Karyotype nge kwezinso ezitholakala mayelana 1% wazo zonke izinsana. Lezi iziyaluyalu kuholele retardation engqondo, pathologies ezehlukene, ngisho nokufa. Amacala kwezinso kwandisa ngeminyaka kwabakhulelwe. Lokhu kulinganisela inomthelela ingozi yokuba ingane ine-Down syndrome. A abakhulelwe eneminyaka engu-35 ingozi 1: 1000, futhi 40 -1: 200 nangemva 45 - 1:19.

Ngingalutholaphi ukwenza lihlaziya karyotype?

Naphezu kweqiniso lokuthi lolu cwaningo abaningi eyaziwa futhi ivamile impela, abanye uyazibuza kudlule lapho karyotype nalapho ukuthatha leli ukuhlaziywa? Le nqubo kakhulu isikhathi esiningi futhi ke ezibizayo, ngakho-ke akuyona eyenziwa semitholampilo wesifunda. Kodwa kuzo zonke edolobheni elikhulu kukhona isikhungo eliyakufika karyotype ukuhlaziywa, wena nje uthole yokudluliselwa kudokotela. Lezi zinhlangano zifaka phakathi:

1. ukuhlela izikhungo umndeni.
2. Medical zofuzo izikhungo.
3. laboratories Modern baqhuba izifundo ezihlukahlukene.
4. kwabakhulelwe ebuntwaneni izikhungo.
5. emitholampilo yangasese.

Ukuvimbela enqabayo sokukhulelwa imiphumela ukuhlonza izimbangela ukungabi nenzalo kudingeka sitadishe ngokucophelela le-chromosome isethi bobabili abashadile. Modern ukuthola karyotype thuthuva kusivumela ukusebenzisa izindlela ezingasiza unayo ingane ephile saka.

Enye yezimbangela eziyinhloko izinguquko kule karyotype kuyinto "okungalungile" spermatogenesis. Ezinye isidoda nge isakhiwo iphazamiseke abathintekayo kulo ukuzalanisa iqanda. Zingadala ukuzalwa umbungu karyotype ongaphilile. Ngaphezu ukubukeka iziyaluyalu ezithinta izimo zemvelo abampofu, okuyinto kuphakamisa a ngokuguqula izakhi zofuzo. Futhi, yena, abe nomthelela ongemuhle ushintsho karyotype womuntu. Lezi ukuguquka kwezakhi zofuzo zizuzwe, ngakho musa engozini impilo yengane yabo engakazalwa futhi kabi libhekisela ukuhlaziywa lolu hlobo.