Aneuploidy - a ... Aneuploidy: tsananguro, hunokonzera, zviratidzo, uye kunyanya kurapwa

Aneuploidy - chirwere chokugara nhaka umo mumasero omuviri ane zvemamiriro nhamba okutodza. Kuti udzidze zvakawanda nezvokuti unganyengetera sei kuratidza aneuploidy uye chii ayo kukonzera, zvishoma kuongorora sechivako muchitokisi mupenyu, sero musimboti uye okutodza pachavo.

A vakasvimha dzidziso

Sezvaunoziva, mune somatic muchitokisi womunhu muviri wose anonzwawo 46 okutodza, ndizvo diploid. Chete mumasero nembeu, ichi chete yakatarwa. Okutodza dziri muchitokisi neerekitironi tiri refu, skompaktizovannuyu DNA akamonyoroka. DNA, akavapindurawo, rinoumbwa monomers - polypeptides. Vamwe polypeptide kutevedzana anogadza Gene - STRUCTURAL chairema yedzinza. DNA rine zvose majini purogiramu pakukura nhengo.

In masero nonsexual mumwe chromosome Hanzvadzi homologous okutodza akafanana chaizvo, asi haana kufanana kune wokutanga. Panguva meiosis ari okutodza kuchinjana zvikamu. Fani iyi inonzi "Crossover." The yoga chromosome refu uye pfupi maoko.

chromosome seti

Set okutodza ane muviri anonzi karyotype. Kazhinji, munhu, sezvo yave akati, karyotype rinotaurwa 46 okutodza, 23 kubva mubereki mumwe, asi akawana anomaly umo karyotype anomiririrwa zvakasiyana. kutyora uyu anonzi "aneuploidy".

Aneuploidy - kubva karyotype imwe mhando umo nhamba okutodza haana kuenzana kuipa. Aneuploidy okutodza, iyo hapana chromosome anonzi monosomy. Kana pasina chiutsi - nullisomiey. Kana, pane chakaipa peya homologous okutodza mune karyotype sokuti homologous matatu, Trisomy ichi. Kuchinja nhamba okutodza kunokonzera kwazvo zvokukura zvirwere. Vamwe vavo vangava kuurayisa.

Aneuploidy nonsexual okutodza (autosomes)

Pane masero zvirwere zvakawanda kuti avatambudze aneuploidy. Mienzaniso zvirwere zvakadai - Down kuti urwere, Patau urwere, Edwards Syndrome. zvirwere zvose izvi zvinokonzerwa kuvapo imwe chromosome dzakasiyana yegwara homologous. Syndrome - vakawanda zvirwere izvi. Kunoratidza pacharo retardation mupfungwa, impairments kukurukura, zvinetso kudzidza.

Zvisinei, Trisomy pamusoro chromosome 21, izvo zvinoita kuti chirwere, haana kumbochinja upenyu anotarisirwa. Makirasi ari yemaitiro kunogona kubatsira varwere kuzadzisa zvimwe kubudirira pakudzidza uye socialization.

Chimwe chirwere, Patau urwere, uyewo hunokonzera aneuploidy. Izvi kutyorwa yakanyanya - mugumisiro Trisomy pamusoro rechi13 chromosome. Varwere kashoma kurarama makore 10, anopfuura 80% ikafa negore upenyu rokutanga, vamwe vanotambura zvikuru mupfungwa retardation. In vana vane Patau chirwere akaratidza microcephaly, kazhinji mwoyo nematambudziko, corneal dzisavhiringidza, kutsemura mukanwa, nzeve yakati akaremara.

The chikuru chinokonzera kuti chirwere Edwards ndiyewo aneuploidy - Trisomy kuti chromosome 18. Vanopfuura 90% vana vane chirwere ichi kufa mwoyo kukundikana negore upenyu rokutanga, vamwe vanotambura zvikuru mupfungwa retardation uye anenge uneducable.

Trisomy 16 chromosome zvakawanda zvakajairika kupfuura chero aneuploidy. Ichi majini rebipolar kunouraya, fetus mudumbu akafa achazomutswa panguva mitatu yokutanga yepamuviri.

Aneuploidy muvanhu vangapikisa isingawanzowanikwi nemagene chirwere - Varkani urwere, Trisomy kuti chromosome 8. Huru Zviratidzo - mupfungwa retardation, mwoyo kuremara, skeletal anomalies.

Aneuploidy zvepabonde okutodza

Namarudzi aneuploidy chisingazivi nguva dzose kuita kuti migumisiro - nokuti Trisomy X chromosome. kutyora yakadaro chete kuvakadzi. Trisomy X-chromosome achiri kakawanda - pa 0.1% yevakadzi. The chirwere murege kuratidza muupenyu hwose, kunoitika munenge 30% nyaya. Nokuti dzasara 70% mubereko kunoratidzwa anotevera zviratidzo: dyslexia, agraphia, matauriro, uye kufamba zvirwere. Kushandiswa Pakadaro, symptomatic kurapa kunoshanda zvikuru uye kunobatsira kuti zvachose kana zvishomanana kubvisa zviratidzo izvi.

Other anomalies chokuita nhamba dzepabonde okutodza, kwakakura zvikuru. Izvi zvinosanganisira Shereshevskoro chirwere - Turner, nyaya inokosha aneuploidy, umo mune karyotype vakadzi - mumwe chete X chromosome panzvimbo dzose maviri. Zviratidzo - mupfungwa retardation, nomumhu, havachanyatsogoni kukura nhengo dzokubereka nadzo kunogona kuva munyoro muchimiro kwepfungwa retardation.

Pane imwe chirwere chakakomba, izvo zviri kukonzerwa aneuploidy. It Klinefelter chirwere - kuvapo imwe kana kupfuura zvimwe X kana Y okutodza muvarume. Zviratidzo haamo kusvikira kutanga kuyaruka. Chinenge hafu wevarwere havana zviratidzo kumarudzi hwavo, apo vamwe vakacherechedza gynecomastia, kufutisa, kushaya mbereko. Mune zvisingawanzoitiki kacho pane pfungwa retardation.

The zvinokonzera aneuploidy

Aneuploidy kunoitika nokuti kuti panguva meiosis iri homologous okutodza regai vakarambana, uye panzvimbo mumwe gamete rakarova peya okutodza, kana asina akawana mumwe. Kana gamete chakaipa nhamba okutodza, uye mumwe - the kanganisika, ari zvemamiriro karyotype zygote vachadaro.

Batana homologous okutodza zvinogona nokuda vanoshorwa ezvinhu zvemhoteredzo kugarotamba zvinokachidza dzakasiyana hunhu. Asi kazhinji chikonzero ndechokuti nhodzera: mumhuri umo kwave zviitiko aneuploidy, ngozi yokuva mwana ane zvemamiriro karyotype wakakwirira kupfuura vabereki utano.

maitikiro

Tinogona kutaura kuti chikuru ngozi kuti chromosomal aneuploidy-chirwere paavhareji riri pasi, sezvo zvirwere zvose majini dzinoiswa sezvo isingawanzowanikwi. Zvinonyatsorehwa Mukana yokuva mwana ane abnormality karyotype mashizha 5% kana vabereki vose vari vatano. Kana mumwe mubereki ane zvemamiriro karyotype, mukana munhu anorwara mwana kusununguka inowedzerawo.

aneuploidies maitikiro kunobva mashoko okutodza. The inonyanya abnormality karyotype - Klinefelter kuti urwere, chromosome aneuploidy pabonde, kakawanda 1 muna 500 achangoberekwa Vakomana, kupfuura zvisingawanzoitiki - Varkani urwere, aneuploidy pamusoro chromosome 8, kakawanda kubva 1:50 000.

mabatiro

aneuploidies kurapwa nguva dzose symptomatic. Apo Shereshevscky chirwere - Turner rinoti pasi kukura uye kushaya hadzi bonde mahormone, nokuti kurapwa kushandiswa anabolic steroids.

chirwere kurapwa Down kuti ipfupi muzvidzidzo pamwe varwere zvirongwa inokosha zvainanga kukura zvishande mano.

Varwere pamwe chirwere Varkani kashoma kurarama makore 20. Nokufamba kwenguva, kuchinja itsva anatomical, mberi kwepfungwa retardation. Kana zvakakodzera, kuita kuvhiyiwa kugadzirisa mamiriro uye pakurapa muzongoza contractures.

Kana vasikana vane Trisomy X-chromosome pane kunonoka kutaura kukura, vangada kubvunza chiremba wechikadzi achindidzidzisa kutaura. Kana matambudziko kunyora uye kuverenga inofanira kuona nyanzvi dyslexia.

Klinefelter chirwere havasi kukanganisa mararamiro varwere. Mune zvisingawanzoitiki kacho pane pfungwa retardation. Zvichienderana dhigirii wayo (munyoro, mwero, yakanyanya), munhu purogiramu yokudzidza. Kana pachena gynecomastia, ungaderedza pabonde basa, kushaya mbereko, ipapo akarwawo kemikari mishonga.

Diagnostics

Ziva fetus nemagene zvirwere zvinogona kushandisa nzira dzakasiyana-siyana (Ultrasound ongororo, nokukanganisika zvezvinangwa nzira).

Achibatsirwa Ultrasound anogona kuzivisa fetus Down kuti chirwere achiri padanho kukura.

Non-invasive pamuviri chirwere kuti aneuploidy inzira yakachengeteka uye yakarurama Pakusarudza inobvira karyotype abnormalities. Nzira iri nyore - nyanzvi inoongorora DNA zvimedu mwana muropa ramai. Invasive chirwere kuti aneuploidy zvikuru zvakarurama, asi anotakura mukana vaingoerekana pamuviri, kuita izvozvo chete muzviitiko.

Zvinhu zvinowedzera mukana wokuti aneuploidy

Zvidzidzo Recent kunge nekusimba kuti pane chaicho kuwirirana pakati rwaamai zera uye ndingangokuvara kuva mwana syndrome, chirwere Patau kuti chirwere kana Edwards. Mukuru mukadzi, dzakanga mukana yokuberekwa mwana wake ane mwero karyotype.

Zvii kutamba inokosha basa kukura aneuploidy bonde okutodza harizivikanwi. Zvinofungirwa kuti basa rinokosha mune nyaya ndohwavakadai kuti yedzinza.