Ndezvipi chromosomal zvisizvo?

Pamwe wakambonzwa nezvazvo chromosomal zvisizvo, kunyanya kana munzvimbo yako yepedyo paine imwe nyaya, iwe uchazoziva zvazviri nezvinyatso nyatso.

Asi kana usati wamboziva nyaya ye munhu ane chromosomal zvisizvo kana usati wambozvizivisa nezvazvo, ipapo chichava zano rakanaka kuramba uchiverenga.

Chromosomal zvisizvo

Chromosomal kusagadzikana ndeaya anokonzerwa nekusajairika mumakromosomes panguva yekubata kwe "fetus". Kana masero ehutachiona (ovum kana chirume) aine kukanganisa mune ruzivo rwavo, shanduko dzinenge dziripo mumasero ese emuviri akaumbwa kubva mukubatana kweaya mageteti. Iko kushanduka kuri, saka, nhaka uye inopfuudzwa kubva kuchizvarwa kuenda kuchizvarwa.

Aya echromosomal abnormalities ndeemhando mbiri: Zvinogona kuve shanduko muhuwandu hwemakromosomes kana echimiro shanduko muma chromosomes. Mune yekutanga, chirwere chinonyanya kuzivikanwa uye chinowanzoitika ndeye trisomy yekromosome 21 kana Down syndrome uye zvimwe zvisingawanzo senge trisomy yechromosome 18 kana Edwards syndrome, trisomy yekromosome 13 kana Patau syndrome.

Uye zvine chekuita neshanduko yechromosome, mhedzisiro yacho inogona kuve yakasiana-siyana: kubva kuzvirwere zvakakomba uye zvisingawanzo kuve nekusaunza chero dambudziko. Yezvirwere zvakajairika isu tinosimbisa: Cat's Meow Syndrome, Prader-Willi Syndrome kana Angelman Syndrome, pakati pevamwe. Tevere tichaenda kuti tione uyu musoro wenyaya zvakanyatsotsanangurwa.

Chii chinonzi chromosome?

Chromosomes zvivakwa zvine majini evanhu. Mageneti ndiyo yega mirairo inotaurira muviri wedu kuti inofanirwa kukura sei uye nemabasa ayo ainofanira kutevedzera. Chromosomes inodzora epanyama uye ekurapa maitiro, ndidzo dzinoita kuraira bvudzi rebvudzi, mhando, mhando yeropa kana kana munhu achizonyanya kurwara.

Ma chromosomes mazhinji ane zvikamu zviviri zvinozivikanwa semaoko akapatsanurwa, ruoko mupfupi runonzi "p" uye rakareba "q". Muviri unoumbwa nezvikamu zvakasiyana zvinodaidzwa kuti masero, kune mhando dzakasiyana dzemasero (ganda, chiropa, ropa ...) uye maseru ese ane chimiro chinonzi "nucleus", mukati memukati mayo ndipo panowanikwa masero "chromosomes".

Ma chromosomes mangani atinawo?

Huwandu hwema chromosomes musero revanhu i46, uye pane makumi maviri nemaviri pairi ane huwandu hunofungidzirwa hwemagene makumi maviri nemakumi maviri kana makumi maviri nemashanu. Imwe seti yemakumi maviri nenomwe echromosomes inotorwa kubva muzai raamai uye imwe seti yemakromosomes inotorwa kubva kuhurume hwababa.

Pamakumi maviri nemaviri aya emakromosomes, iwo makumi maviri nemaviri ekutanga anonzi "autosomes" uye maviri ekupedzisira ndiwo "echromosomes ebonde." Zvepabonde ma chromosomes anosarudza bonde mumunhu, vakadzi vane maviri x chromosomes (XX) uye varume vane imwe X chromosome uye imwe Y chromosome (XY). Amai nababa vanopa kune makumi maviri neshanu autosomal set uye chromosome yebonde.

Chromosomal zvisizvo

Kune mhando dzakawanda dzechromosomal zvisizvo, zvisinei, parizvino, zvinogona kuve zvakarongeka sezvandambotaura pamusoro mumapoka maviri akakosha: kuwanda kwenhamba uye kusagadzikana kwechimiro.

Kuwanda kusanzwisisika

Mune manhamba zvisina kujairika, munhu ari kushaya imwe yemakromosomes evaviri, chimwe chinhu icho inozivikanwa se monosomy. Kana munhu aine ma chromosomes anopfuura maviri panzvimbo peya vaviri, mamiriro acho anonzi trisomy.

Sezvandambotaura pakutanga kwechinyorwa chino, muenzaniso wehuwandu hwehuwandu huchave Down syndrome, iyo inoratidzirwa nekunonoka kwepfungwa, matambudziko ekudzidza, chimiro chechimiro chechiso, kushaikwa kwemhasuru toni muhucheche, rurimi rwakajairika zvakajairwa, nezvimwe. Munhu ane Down syndrome ane matatu makopi echromosome 21 pachinzvimbo chechipiri, nekuda kwechikonzero ichi chimiro ichi chinonziwo Trisomy 21.

Mumwe muenzaniso wemonosomy umo munhu asina chromosome ndiTurner Syndrome. Mune ino syndrome, kazhinji mukadzi anozvarwa aine imwechete bonde chromosome, X uye anowanzo mupfupi pane zvakajairwa saka haakwanise kuita vana pakati peamwe matambudziko.

Zvimiro zvakashata

Mune aya anomalies mamiriro echromosome anogona kuchinjwa munzira dzinoverengeka, semuenzaniso:

• Kubvisa: chikamu chekromosome chinoshaikwa kana kubviswa.
• Dzokororo: chikamu chechromosome chakadzokororwa saka pane zvimwe zvekuwedzera magene.
• Shanduko: chikamu chekromosome chinotamisirwa kune imwe chromosome, kune maviri akakosha marudzi ekufambisa: kudzokorora uye kufambisa kweRobertsonia. Mukutenderera kwakadzokororwa zvikamu zvemakromosomes maviri akasiyana akachinjaniswa. Uye mukufambisa kweRobertsonia, chromosome yakazara inobatana neimwe pakupatsanurwa kwemaoko echromosome (centrometer).
• Investment: chikamu chekromosome chinosendekwa kana kusungirirwa, chimwe chinhu chinoita kuti hutachiona hutendeswe.
• Zvindori: chikamu chekromosome chinodambuka chobva chagadzira denderedzwa kana ringi, izvi zvinogona kuitika nekurasikirwa kana pasina kurasikirwa kwemajini.

Nei chromosomal zvisizvo zvichiitika

Mazhinji chromosomal zvisizvo zvinoitika nekuti dambudziko rinoitika nezai kana urume panguva yekusangana kana mushure mekunge zai rasangana. Kana dambudziko rikaitika muzai kana urume, iko kusakwana kunenge kuripo mune yese sero yemuviri. Asi zvimwe zvisina kujairika, zvakadaro, zvinoitika mushure mekubata pamuviri saka mamwe masero anogona kunge asina kujairika uye mamwe angave asiri.

Chromosomal zvisizvo zvinogona kugarwa nhaka kubva kuvabereki kana kuve zvitsva kune mumwe munhu. Ichi chikonzero nei kana mwana achinge azvarwa aine zvisizvo, chromosome zvidzidzo zvinowanzoitwa kutanga kuvabereki.

Chromosomal zvisizvo zvinowanzoitika kana paine kukanganisa mune kupatsanurwa kwesero. Kune mhando mbiri dzekuparadzaniswa kwemasero, mitosis (maviri maseru akapetwa esero rekutanga) uye meiosis (masero ane hafu yenhamba yemakromosomes, 23 panzvimbo ye46). Panogona zvakare kuve nezvimwe zvinhu zvinowedzera njodzi yechromosomal zvisizvo, senge zera remamai.