Chromosome inopfuura yevanhu. Chromosomal kusagadzikana

Mumuviri wevanhu ishungurudzo yakawanda, yakasiyana-siyana iyo inoshanda kumatanho akasiyana. Kuchengetedza kuti nhengo nemasero zvinogona kushanda nenzira yakarurama, zvimwe zvinhu zvinofanira kutora chikamu mune zvimwe zviito zvehupenyu. Kuti uite izvi, iwe unoda nheyo yakasimba, ndiko kuti, kutora kwakakwana kwejinikiti code. Izvo izvi zvakagarwa nhaka inotungamirira kukura kwemukati.

Zvisinei, mune ruzivo rwehupenyu, pane dzimwe nguva pane kuchinja kunowanikwa mune masangano makuru kana kufungisisa maitiro ega ega. Zvikanganiso zvakadaro zvinonzi maitiro ekuchinja. Mune zvimwe zviitiko, dambudziko iri rinoreva maumbirwo emakamuri esero, kureva, kuti ma kromosomes akazara. Saizvozvowo, munyaya iyi, iko kukanganisa kunonzi mutamende wechromosome.

Sero rimwe nerimwe revanhu rinowanzo rine nhamba yakafanana yekromosomes. Ivo vakabatanidzwa nemajene akafanana. Izvo zvakakwana ndezvi 23 mapaundi ema kromosomes, asi mumasero epabonde vane 2 madiki maduku. Izvi zvinokonzerwa nekuitika kuti panguva yekudyara, kufunganidzwa kwemuviri uye ovule kunofanirwa kumira kusanganiswa kwakakwana kwemajeni ose anodiwa. Kugoverwa kwavo hakusi kungoerekana kwaitika, asi nenzira yakanyatsotsanangurwa, uye kurongeka kwakadaro kwakakwana kune zvakafanana kune vanhu vose.

Chromosomal mutations inobatsira kuchinja munhamba yavo nekugadzirisa. Nokudaro, imwe chromosome inogona kuonekwa kana, zvakare, iyo ichashaikwa. Uku kusanzwisisika kungave kuri kukonzera kubvisa pamuviri kana kuita kuti kutanga kwezvirwere zvechromosomal zvivepo.

Mhando dzekromosomes uye dzisina kukwana

Iyo chromosome ndiyo inotakura mashoko ane nhaka muchitokisi. Iyo DNA yakapetwa kaviri mumatambudziko ane histones. Kuumbwa kwemakromosomes kunowanikwa muprophase (nenguva yekuparadzaniswa kwesero). Zvisinei, munguva ye metaphase, zviri nyore kuidzidza. Chromosomes, iyo inoumbwa nema chromatids maviri, kureva, akabatanidzwa nechinhu chinonyanya kushandiswa, chiri paEquator yesero. Icho chinonyanya kukwikwidza chinoparadzanisa chromosome muzvikamu zviviri zvehurefu kana hwakasiyana.

Iko kune marudzi anotevera e-chromosomes:

• Metacentric - ane mafudzi akaenzana;
• Submetacentric - nemapfudzi eusina urefu;
• Acrocentric (tsvimbo-yakaumbwa) - ine imwe pfupi, uye imwe yepfudzi refu.

Anomalies yakawanda uye yakakura. Nzira dzekutsvakurudza dzinopesana zvichienderana neyiyi parameter. Mamwe haagoni kuonekwa ne microscope. Mumamiriro ezvinhu akadaro, nzira yakasiyana-siyana inoshandiswa inoshandiswa, asi chete kana nzvimbo inobatwa inofungidzirwa mumamiriyoni einucleotides. Chero bedzi kuburikidza nekugadzira mararamiro e nucleotide, kuchinja kwechidiki kunogona kuonekwa. Uye kukanganisa kukuru kunokonzera kukanganisa kunotaurwa pamuviri womunhu.

Mukushayikwa kweimwe chromosomes, iyo anomaly inonzi monosomy. Iko kromosome yakawanda mumutumbi trisomy.

Chromosomal zvirwere

Zvirwere zvechromosomal zvinoshandiswa nemaitiro ezvinyorwa zvinokonzerwa nemusana wechromosome. Dzinomuka nekuda kwekuchinja kwenhamba yekromosomes kana huru rearrangements

Apo mishonga yakanga ichiri kure kure nehuwandu hwezvino hwekufambira mberi, yaitenda kuti munhu ane 48 chromosomes. Uye muna 1956 chete vakakwanisa kunyatsoverenga, nhamba uye kuziva hukama pakati pekuputsa kwenhamba yekromosomes uye dzimwe zvirwere.

Makore matatu gare gare musayendisiti wechiFrench J. Lejeune akawana kuti kutyora kune vanhu vane kukura kwepfungwa nekudzivirira zvirwere zvakananga zvakananga ne genomic mutation. Yaiva yezve 21 chromosomes. Icho chimwe chezviduku zvikuru, asi zvine nhamba huru yemagene. Iko kromosome yakawedzerwa yakaonekwa muvana 1 000 000 vacheche. Ichi chirwere chromosomal ndiyo inonyanya kudzidza uye inonzi Down syndrome.

Mugore rimwechete ra19959, rakadzidzwa uye rakaratidza kuti kuvapo kwechimwe che X chromosome muvarume kunotungamirira kuchirwere cheKleinfelter, umo munhu ane chirwere chekucheka mupfungwa uye kusagadzikana.

Zvisinei, pasinei nokuti chromosomal zvisiri izvo zvinowanikwa uye zvakadzidzwa kwenguva yakareba, kunyange mishonga yemazuva ano haikwanisi kurapa zvirwere zvepabonde. Asi nzira dzekuona kushanduka kwakadaro kwakanyatsogadziriswa.

Zvinokonzerwa nekromosome yakawandisa

Anomaly ndiyo chete chikonzero chekubuda kwemakromosomu makumi maviri nematanhatu panzvimbo yezvakatarisirwa 46. Nyanzvi dziri mumunda wemishonga dzakaratidza kuti chikonzero chikuru chekuonekwa kwechimwe chromosome ndiyo nguva yemangwana amai. Vakuru vane pamuviri, iyo yakawanda mikana yekusava nekuparadzaniswa kwemakromosomes. Nechikonzero ichi chete vakadzi vanokurudzirwa kubereka kusvika makore 35. Mukana wekudzivirira mushure mezera rino rinofanira kuongororwa.

Zvimwe zvinokonzera kuonekwa kwechinyorwa chechiromosome zvinosanganisira hutachiona hwemumaly hwakawedzera munyika yose, chiyero chekusvibiswa kwezvakatipoteredza nezvimwe zvakawanda.

Iko kune pfungwa yokuti imwe chromosome inowanikwa kana paiva nemafungiro akafanana mujeri. Inongova ngano: zvidzidzo zvakaratidza kuti vabereki vane vana vane chirwere chechiromosomal vane karyotype yakakwana.

Kuongororwa kwechimiro chemucheche ane chromosomal isina kufanana

Kuzivikanwa kwekuputswa kwenhamba yekromosome, iyo inonzi anuploidy kuongorora, inoratidza kushayikwa kana kuwandisa kwemakromosomes mumumbryo. Vakadzi vane pamuviri vanopfuura makore 35 vanokurudzirwa kuti vaite chirongwa chekuwana sampuli ye amniotic fluid. Kana kukanganisa karyotype kunowanikwa, amai vakamirira vachada kubvisa pamuviri, sezvo mwana achange achirwara nechirwere chakakomba nguva dzose mukushaikwa kwekugadzira nzira dzakanaka dzokurapa.

Dambudziko re chromosome rinowanzobva mumwana, saka zvakakosha kuongorora kwete chete masero embryo, asiwo zvinhu zvinoumbwa panguva yekutsvaga. Iyi nzira inonzi hutano hwema genetic marwadzo mumitumbi ye polar.

Down Syndrome

Musayendisiti uyo akatanga kutsanangura maMongolism ari Down. Iko kromosome yakawedzerwa, chirwere chemajeni muhupo hweizvoizvo chinokura, chinowanzodzidza. NeMongolian, trisomy inowanikwa pama 21 chromosomes. Izvozvo ndiko kuti panzvimbo yezvakatarisirwa 46, murwere anogamuchira ma chromosomes 47. Chiratidzo chikuru ndicho chikafu mukukudziridza.

Vana vane ruzivo rwekuwedzerwa kromosome vane matambudziko makuru ekufananidza zvinhu mumamiriro ezvinhu echikoro, saka vanoda nzira imwe yekudzidzisa. Mukuwedzera kune pfungwa, kune kupotsa mukukura kwemuviri, kureva: maziso akaputika, chiso chakakomberedzwa, miromo yakazara, rurimi rwakadzika, ruvara rwakapfupika kana rwakawedzerwa nemakumbo, kuwanda kweganda mumutsipa. Upenyu hwekutarisira huwandu hunosvika makore makumi mashanu.

Syndrome Patau

Trisomy inosanganisirawo maPatau syndrome, mune ma 3 makopi 13 emakromosomes. Chimwe chinhu chinokanganisa kukanganisa kwenheyo yenheyo yepamusoro kana kushandiswa kwayo pasi. Mune varwere, maitiro akawanda ehutachiona anowanikwa, kusanganisira congenital heart diseases . Vanhu vanopfuura 90% vane Patau syndrome vanofa mugore rokutanga rehupenyu.

Edwards Syndrome

Izvi zvakashata, zvakafanana nepfuura, ndezve trisomy. Muchiitiko ichi tinenge tichitaura nezvemasikromosomes 18. Edwards syndrome inoratidzika nezvinetso zvakasiyana-siyana. Chaizvoizvo, varwere vanoona kurasika kwefupa, kuchinja skull fomu, zvinetso nezvikamu zvekupumha uye mwoyo yemavhu. Hupenyu hunotarisirwa huri mumwedzi mitatu, asi vamwe vana vanorarama kusvika gore.

Matenda endocrine mu chromosomal kusagadzikana

Mukuwedzera kune aya syndromes echromosomal asina kufanana, pane mamwe, umo mune nhamba uye nhengo dzemaitiro dzinoonekwa zvakare. Zvirwere zvakadaro zvinosanganisira zvinotevera:

1. Triploidy chirwere chisingawanzozivikanwi chema chromosomes, umo nhamba yavo yakafanana 69. Kuberekwa kunowanzoguma nekuparara kwepakutanga, asi kupona kwomwana kunorarama kwemwedzi isingapfuuri 5, dzakawanda dzisina mhosva dzinowanikwa.
2. Wolff-Hirschhorn syndrome ihwowo ndeyei rarest chromosomal isina kukanganisa inowanzokonzerwa nekubviswa kwerutivi rweparal rwekanguva kadiki ye chromosome. Nzvimbo inonyanya kukosha yechirwere ichi ndeye 16.3 pane chromosome 4p. Unhu hunosanganisira - matambudziko okukurira, kukurumidza kukurumidza, kukanganisa uye maitiro ezviso
3. Prader-Willi syndrome - chirwere chacho hachiwanzoitiki. Ne chromosomes yakashata kudaro, majeni manomwe kana zvimwe zvezvikamu zvadzo pamakromosomes gumi nemashanu haatongoshanda kana kubviswa zvachose. Zviratidzo: scoliosis, strabismus, kunonoka pakugadzirwa kwepanyama uye kwepfungwa, kuneta kwakakurumidza.

Nzira yekurera mwana ne chirwere chromosomal?

Kurera mwana nehutachiona hwechirwere chechirwere hakusi nyore. Kuti urarame hupenyu hwako, unofanira kutevera mamwe mitemo. Kutanga, tinofanira kubva takakunda kuora mwoyo uye kutya. Chechipiri, hapana chikonzero chekuparadza nguva yekutsvaga ane mhosva, iyo haisipo. Chechitatu, zvakakosha kuziva kuti ndeupi rubatsiro runodikanwa kumwana nemumhuri, uye zvino wotendeukira kuvadzidzisi vezvechiremba uye zvepfungwa-rubatsiro rwekudzidzisa.

Mugore rokutanga rehupenyu, hutachiona hunokosha zvikuru, sezvo munguva ino motokari inoshanda. Nekubatsirwa kwevashandi, mwana achakurumidza kuwana mikana yemagetsi. Zvakakosha kunyatsoongorora mwana pahutano hwekuona uye kunzwa. Uyewo mwana anofanira kuonekwa pamubereki, psychoneurologist uye endocrinologist.

Vabereki vanokurudzirwa kuti vabatane neChirungu chakanaka kuitira kuwana mazano anobatsira kubva kuvanhu vakakunda mamiriro ezvinhu uye vakagadzirira kugovana.

Mutakuri we chromosome inowanzoshamwaridzana, kazhinji inofambisa kurera kwake, uye anoedzawo kugamuchira kubvumirwa kwevanhu vakuru sezvaanogona. Nhamba yekugadzirwa kwechechecheche inotarisana nekuoma kwaizove kumudzidzisa unyanzvi hwehutano. Vana vanorwara kunyange vakarara shure kwevamwe, asi vanoda zvakawanda. Nguva dzose inodiwa kukurudzira rusununguko rwemwana. Kuita unyanzvi hwekuzvipira hunoenderana nemuenzaniso, uye zvino mugumisiro hautore nguva refu kumirira.

Vana vane zvirwere zvechromosomal vanopiwa matarenda chaiwo anoda kuzarurirwa. Izvi zvinogona kuva mimhanzi kana kutora. Zvakakosha kukudziridza kutaura kwechecheche, kutamba kushingaira uye kukudziridza mitambo yemagetsi, kuverenga, uyewo kugadzirisa hurumende nekururama. Kana ukaratidza unyoro hwako hwose, kutarisira, kuteerera uye rudo kumwana, iye achapindura zvakafanana.

Zvingave zvichibvira kurapa here?

Kusvika zvino, hazvibviri kuporesa zvirwere zvechromosomal; Nzira imwe neimwe yakarongwa ndeyekuedza, uye kubudirira kwavo kwekliniki hakuratidzi. Kubudirira kubudirira mukukudziridza, kushamwaridzana uye kuwana unyanzvi kunobatsirwa nehutano hwakanaka hwehutano uye hwekudzidzisa.

Mwana anorwara anofanira kugara achicherechedzwa nevanyanzvi, sezvo mishonga yakasvika kusvika pakatarisa iyo inokwanisa kupa zvinhu zvakakodzera nemhando dzakasiyana-siyana dzerapi. Vadzidzisi vachashandisa nzira dzemazuva ano mukudzidziswa nekuvandudza mwana.