Chromosomes ine ruzivo rwemashoko mune maitiro ejeni. Iko kamukati reeseki yega yega, kunze kweii uye chirume, ine 46 chromosomes, ichiumba 23 maviri. Imwe chromosome mubato rimwe nerimwe inotorwa kubva kuna amai, uye imwe kubva kuna baba. Mumakonde maviri, gumi nemakumi maviri nemaviri emakirosiomomesheni akafanana, chete maviri echromosomes zvepabonde akasiyana. Vakadzi vane maviri X-chromosomes (XX), uye mune varume pane imwe X- uye imwe Y-chromosome (XY). Nemhaka yeiyo, mararamiro echirongwa chekromosomes (karyotype) yemurume ari 46, XY, uye mukadzi - 46, XX.
Chromosomal kusakanganisika
Kana kukanganisa kunowanikwa panguva yakasiyana-siyana yemasero ekuparadzanisa, umo maoocyte uye spermatozoa zvinoumbwa, zvino zvinosvibisa majekiseni emasero anomuka, izvo zvinotungamirira pakuberekwa kwevana vane chromosomal pathology. Chromosomal kusaenzana kunogona kuva yakakwana uye yakarongeka.
Kukura kwepabonde revana
Mumamiriro ezvinhu akadai, kuvapo kweY-chromosome kunotungamirira kukurudzirwa kwechirume chechikomana, pasinei nenhamba ye-X-chromosome, uye kusavapo kwe-Y-chromosome - kusvika pakukura kwechikadzi chekuberekwa. Anomalies emakromosomu epabonde ane zvishoma zvinokuvadza pamamiriro ezvinhu emuviri (phenotype) kupfuura zvisizvo zvevotosomal. Y-chromosome ine nhamba shomanana yemagenene, saka mairi ayo akawedzerwa ane zvishoma. Varume nevakadzi vose vanoda kuvepo kwechinhu chimwe chete chinoshandisa X chromosome. Zvichida X-chromosomes zvinenge zvisingachaiti zvachose. Izvi zvinoderedza kushanda kwei-X-chromosomes zvisingawanzoiti, sezvo makopi asinganzwisisiki uye anorongeka asingashandisi, achisiya imwe chete yakakwana X chromosome "kushanda". Zvisinei, kune mamwe magenzura pane X chromosome inodzivisa kusagadzirisa. Zvinotendwa kuti kuvapo kweimwe kana maviri emakopi emajini akadaro ndiko kunokonzerwa neenjenotypes dzisina kuenzana dzakabatana nekusawirirana kwekromosomes zvepabonde. Mu laboratori, kuongorora kwechromosome kunoitwa pasi pechiedza chema microscope pakushambadza kwe-1000-fold. Chromosomes inowanikwa chete apo sero rinoparadzaniswa kuva mbiri dzinofananidzwa nehanzvadzi masero. Kuti uwane ma-chromosomes, masero eropa anoshandiswa ayo anokwidziridzwa mune imwe yega yega inowedzera mune zvinovaka. Pane imwe nzvimbo yekuparadzanisa, masero anobatwa nechinetso chinokonzera kuti vauye, izvo zvinopindirana ne "kusvinura" nekuparadzanisa ma chromosomes. Masero anobva aiswa pane microscope slide. Sezvavanomesa, chikamu chesero chinoputika nekubudiswa kwemakromosomes kupinda mumamiriro ekunze. Chromosomes dzakasvibiswa nenzira yakadai kuti pane imwe neimwe yadzo yakaita sedhiyumu uye yerima (disband), iyo yakarongeka pane imwe neimwe. Chimiro che chromosomes uye chimiro chesaikisi chinonyatsodzidziswa kuitira kuti chione chromosome imwe neimwe uye ione kusakanganisika kunogona kuitika. Kuongororwa kunokanganisa kunowanikwa apo pane kushaya kana kuwandisa kwemakromosomes. Zvimwe syndromes zvinokura semugumisiro wezviremera zvakadaro zvine zviratidzo zvakajeka; vamwe vanenge vasingaoneki.
Pane huwandu hukuru hunokonzera kromosomal, iyo imwe neimwe inosanganiswa neimwe chirwere: 45, X - Turner syndrome. 45, X, kana kusavapo kwechipiri chromosome yechikadzi, ndiyo karyotype yakanyanya kufanana mu Turner's syndrome. Vanhu vane chirwere ichi vane hukadzi hwevakadzi; kazhinji chirwere ichi chinowanikwa pakuberekwa pamusana pemhando dzakadai seganda rinoputika kumutsipa wegurupa, kuzvimba kwemaoko nemakumbo uye kuderedza muviri. Zvimwe zviratidzo zvinosanganisira nguva shoma, shangu shoma nepterygoid mapepa, chifukidzo chakakura uye mazamu aripo, zvipembenene zvemwoyo uye kusaputika kwemafuro ekuputika. Vakawanda vakadzi vane Turner's syndrome havakwanisi, havakwanisi kuenda kumwedzi uye havasi kuita zvepabonde zvepabonde, kunyanya zvipembenene zvinyoro. Vanenge vose varwere, zvisinei, vane unhu hwakanaka hwekuvandudza mupfungwa. Chiitiko che Turner syndrome chiri pakati pe1: 5000 uye 1:10 000 vakadzi.
■ 47, XXX - trisomy ye X chromosome.
Inenge 1 muvakadzi vakadzi vane karyotype 47, XXX. Vakadzi vane chirwere ichi vanowanzorembera uye vakapfava, vasina hunoonekwa pachena. Zvisinei, ivo vanowanzova nekuderera muuchenjeri chimwe nechimwe mune zvinetso mukudzidza uye mufambiro. Vakadzi vazhinji vane trisomy X-chromosomes vanobereka uye vanokwanisa kuva nevana vane maitiro ezvigadzirwa zvechromosomes. Iyo syndrome haigoni kuonekwa nekuda kwekusaoneka kwakaratidzwa kwezviitiko zve phenotypic.
■ 47, XXY - Klinefelter's syndrome. Inenge 1 mu1000 varume vane Klinefelter syndrome. Varume vane karyotype ye 47, XXY vanotarisa zvakakwana pakuberekwa uye pavanenge vachiri vaduku, kunze kwezvinetso zviduku mukudzidza uye mufambiro. Unhu hunooneka hunoonekwa panguva yekuyaruka uye hunosanganisira kukura kwakakura, mazamu maduku, kusarirwa kwepermatozoa, uye dzimwe nguva kusagadzikana kwehutano hwepabonde nehutachiona hwakawedzerwa.
■ 47, XYY - XYY syndrome. Rimwe Y chromosome inowanikwa munenge 1 mu1000 varume. Varume vakawanda vane XYY syndrome vanoita sevakanaka, asi vane kukura kwakakura uye hutsika hwehuchenjeri. Chromosomes inomira yakatarisa yakafanana netsamba X uye ine maoko maviri marefu uye maviri marefu. Chimiro cheT Turner syndrome ndizvo zvinotevera: isochromosome pamaoko akareba. Panguva yekuumbwa kwamazai kana spermatozoa, kupatsanurwa kwemakromosomes kunowanzoitika, kuputsa kukanganisa kwekrisosome ine mafudzi maviri akareba uye kusakwana kwese kwekromosomes madiki kunogona kuonekwa; ring chromosome. Iyo inoumbwa nekuda kwekurasikirwa kwemagumo emakumbo mafupi uye akareba e-X chromosome nekubatanidzwa kwezvikamu zvakasara kusvika kumhete; kubvisa (kurasikirwa) kwechikamu chechifupi chine imwe yei X chromosomes. Anomalies ehurefu refu ye X chromosome inowanzokonzera kusagadzikana kwehutano hwekuberekera, somuenzaniso nguva isati yasvika kumwedzi.
Y-chromosome
Iyo jena inobatsira pakuvandudzika kwemashure embryo inenge iri pfupi pfupi yeY chromosome. Kubudiswa kwemukati mutsva kunotungamirira pakuumbwa kwechikadzi chinonzi phenotype, kazhinji nezvimwe zviratidzo zve Turner's syndrome. Zvisikwa pamafudzi akareba zvinokonzera kubereka, saka chero kusunungurwa kuno kunogona kuendeswa nehutu husina simba.