Karyotypes - it .... bafumanisa phi karyotype?

Abantu kaninzi babhidanisa amagama yaye andiluqondi umahluko phakathi syndromes chromosomal gene kunye nezifo. La magama ezimbi ezahlukeneyo. Kweli nqaku uza kufunda into karyotype, yintoni na inkalo ukuphazamiseka chromosomal.

Ntoni igama elithi "karyotype"?

Karyotype - indibanisela zofuzo ezithile. izifundo Cytogenetic ngokwemiqathango nobungakanani zabo kunye nesakhiwo kwenziwa ngalo naliphi na ubudala, kanye apha ebomini. Yintoni kumiselwa ukususela chromosome kuphononongo:

1. Imilo nobukhulu.
2. ubude egxalabeni.
3. Ukubakho constrictions ezongezelelweyo.
4. Indawo telomere.

iintlobo karyotypes

Kuzo zonke iintlobo zezinto eziphilayo, kuquka abantu, uye karyotypes ezahlukeneyo. Kuba le nto yindibanisela zonke iimpawu zofuzo, ukwakhiwa kweengongoma ezahlukileyo ze enika eqhelekileyo yokusebenza zokuphila yehlabathi ngamnye ethile. Karyotype ngu:

1. Iintlobo oko luphawu kuphela iintlobo.
2. abantu eqhelekileyo - ngamnye.

karyotype kwabantu Eqhelekileyo

Izifo kunye utshintsho lwezidumbu, ebizwa chromosomal. Genetics ukufunda iimpawu zazo kunye nesakhiwo. Xa zofuzo eqhelekileyo yabantu (karyotype) ibandakanya ngamaqhekeza 46. Kule isakhiwo kukho iintlobo ezimbini. zofuzo Sex ziqulethwe isixa lamaqhosha-2. Eziseleyo 22 ngababini - maqanda, zibizwa ngokuba "autosomes."

Kwabasetyhini, zofuzo ngesondo ziboniswa iperi XX (zofuzo ezimbini ezinkulu) kunye namadoda - XY (enye enkulu yaye omnye elincinane). Ngenxa yesi sizathu, karyotype eqhelekileyo kwisiqingatha entle uluntu elinalo 46XX ifomula, namadoda - 46XY. Naziphi na izinto ezinxaxhileyo le fomyula kunokubangela malformations ezahlukeneyo, malformations, kwesisu, nenzalo, kunye nabanye.

karyotype

Uhlalutyo Karyotype kwenzeka kwinqanaba sisahlula yeseli, xa imilinganiselo zabo zatshintsha. Ngeli xesha, ukuba ziyafumaneka ukuze ingqalelo. Funda kwi karyotypes eyenziwa inkqubo bala ekhethekileyo kunye nokufunda koko zofuzo neemicroscope ekukhanyeni. Le ndlela ivumela sikwazi ukubona ubungakanani kunye imilo, isakhiwo ezo zidumbu, kwakunye constrictions lokuqala okanye neziziisekondari inhomogeneity kwezi sayithi. inkqubo isiqu yezizwe yenzelwe ukuchaza abangaboniyo utshintsho chromosome. Okokuqala, cacisa inani (amanani) uze kugubha ngohlobo lwazo - ngokwesondo okanye autosomes, kwaye isithuba elilandelayo - ibonisa (ikakhulu ubude igxalaba).

Yonke mifanekiso ukufota ngaphantsi ngemicroscope ukuze benze utshintsho, kwaye zizo zonke abasebenzi ekugqibeleni wenza up umfanekiso opheleleyo. Kubalulekile ukuba avavanyelwe karyotypes, oko kuya kunceda ukuchonga ngezifo ezahlukeneyo kumabakala okuqala yokuzalwa kunye nophuhliso mbungu. Ngapha koko, oku kuchaphazela yokuzalwa ophile.

Iindidi zovavanyo ze karyotype

Kukho 2 iintlobo lezifundo kwi karyotype:

1. Nokuzimisela karyotype in leukocytes. Esi sifundo siqhutywa abadala okufumana okanye ngaphandle ukungaqheleki chromosomal. Ngapha koko, ukuba kuqinisekisiwe, oko zingavela kwizizukulwana elizayo isifo yemfuza. Kolu hlolisiso, isigulane kufuneka kudlule igazi phezu karyotype.
2. isifundo siswini. Olu hlahlelo lwenziwa Esibelekweni ukuchonga ukungaqheleki chromosomal kwi olungekazalwa. Kubalulekile ukuba abazali ukuba benze uhlahlelo, khangela karyotype. Ixabiso kuba, nangona udimazekile, kodwa kufuneka imali kwaye wenze uphando. Xa ezinye iziphumo zohlalutyo eboniswe ukupheliswa yokukhulelwa, njengoko kwizifo ezingekazalwa zingangahambelani ebomini okanye kwixa elizayo iya kuzisa iziphumo enzima, noqhekeko.

Ngubani kufuneka zihlolelwe karyotype?

Kumazwe amaninzi, karyotype yinto yokuqala efunekayo ukuze umtshato. Kufanele, ngenxa yokuba nawuphi na umntu unakho ukutshintsha ubume zofuzo, engaquki kuchaphazela impilo yakhe. Kodwa oku kungenzeka kuphela xa uceba ukukhulelwa.

Njengoko kunjalo kunye nokuhanjiswa zezinye iimvavanyo, kukho izikhokelo ezivela lwezizalwane ngokupheleleyo ukuze definition. Iqela lokuqala luquka:

1. Ubukho a yemfuzo omnye wabalingane.
2. kwesisu njalo.
3. Ukuba usana ngesifo yemfuza.
4. Age of okhulelwe unina okanye ukukhulelwa ucwangciso abafazi kwama-35 eminyaka.
5. Iziphumo umzimba yeemeko ezahlukeneyo yayintsholongwane eyosulela ezifana radiation, imichiza, njl
6. Ukophulwa zophuhliso ngokwesondo.

eziveza Relative lonikezelo kwi karyotypes - eli sengqondo optional. Cazulula kwiimeko ezinjalo kuyanqweneleka Kwathi.

Yintoni na ukufumana ngexesha lihlaziya karyotype?

Abapase kulo sifundo, sinokufunda lukhulu malunga nempilo yabo yemfuza. Eyokuqala emihle zonke - nto inkolelo yokuba umntu isempilweni. Naluphi na utshintsho karyotype uthe ukutenxa kwisiqhelo. Olu hlobo zophando ziya kunceda ukuba wazi:

1. Ubangelwa zezigulo ezahlukeneyo kubantwana, ezifana kokulibazisa yophuhliso, abakhubazeke ngokwasengqondweni, ukumisa ngaphambi ukukhula kunye nabanye.
2. Ukuze ufumanise iingozi ngokuzalwa wenzala kunye nezifo yemfuza.

Ukongeza, le hlalutyo kuvumela ukuba uchonge iintlobo zezifo chromosomal. kugqame khona ifomula, oko kukuthi syndromes karyotypes ezifana:

1. syndrome Down kaThixo. Esi sifo kuye kwasekwa ngaphakathi zofuzo sikamama esizalweni 47. Ngowe-21 izibini bafumana iyunithi eyongezelelweyo, nenoxanduva esi sifo.
2. Polysomes kwi X-chromosome.
3. Patau syndrome.
4. ukukhubazeka Various.
5. Cat ukukhala syndrome kunye nabanye.

Karyotype abanala makhwiniba ezifumaneka malunga-1% yazo zonke kubelekwa. Ezi ukuphazamiseka kukhokelela ukukhubazeka engqondweni, ezimbi ezahlukeneyo, kunye nokufa. Amatyala ezingaqhelekanga kwanda yobudala koomama. Le rate iphembelela ingozi yokuba usana Down syndrome. A okhulelweyo eneminyaka engama-35 umngcipheko 1: 1000 ukuya ku-40 -1: 200 yaye emva 45 - 1:19.

phi ndenza lihlaziya karyotype?

Nangona kwesi sifundo abaninzi yaziwe eziqhelekileyo, abanye uyazibuza ukuba kudlula apho karyotype nalapho eli hlalutyo? Le nkqubo ixesha elide kakhulu yaye ke ngoko eninzi, ngoko ke yenziwa ezikliniki zesithili. Kodwa kwisixeko yonke elikhulu liziko, abaya karyotype uhlalutyo, ufumana nje isicelo esisuka kugqirha. Le mibutho iquka:

1. amaziko zocwangciso-ntsapho.
2. amaziko genetics Medical.
3. iilebhu Modern izifundo ezahlukeneyo.
4. amaziko kubeleka kunye nabantwana.
5. kwiiklinikhi zabucala.

Ukuthintela iziphumo ukukhulelwa ezingalunganga kwaye ukuba oyena nobangela ukungachumi kufuneka ukufunda ngenyameko chromosome isethi omabini amaqabane. Modern ukuphazamiseka Ubhaqo karyotype ivumela ukuba sisebenzise iindlela ezinokukunceda ube nosana enempilo.

Omnye unobangela utshintsho kwi karyotype into "ephosakeleyo," spermatogenesis. Abanye isidoda kunye nesakhiwo kuphazamisekile inxaxheba ukuchumisa eqandeni. Baya kunokubangela ukuzalwa umbungu karyotype engaqhelekanga. Ukongeza inkangeleko ukuphazamiseka echaphazela iimeko amahlwempu zokusingqongileyo, nto leyo evusa kuguquka zofuzo. Kwaye ke, nayo, ibe nempembelelo engentle kummandla we utshintsho karyotype yabantu. Ezi izakhi azuze, ngoko musa esichengeni impilo yomntwana wabo olungekazalwa kwaye bembiza ibhekisa uhlalutyo hlobo.