Aneuploidy - a ... Aneuploidy: inkcazelo, ebangela, iimpawu, kunye uhlobo oluthile unyango

Aneuploidy - yokugula apho iiseli zomzimba kukho inani okungaqhelekanga zofuzo. Ukuze ufunde okungakumbi malunga ukubonakalisa njani aneuploidy kwaye yintoni unobangela wayo, ukuhlalutya ngokufutshane enjengesakhiwo eliphilayo, iseli ngumongo kunye zofuzo ngokwabo.

A bit mbono

Njengoko usazi, kwiseli nganye somatic omzimba womntu eziqhelekileyo zofuzo 46, oko kukuthi diploid. Kuphela iiseli yintsholongwane, eli iseti enye. Zofuzo ibekwe yeseli nucleus kwaye elide, skompaktizovannuyu DNA Helix. DNA, nto, wenziwa monomers - polypeptides. ulandelelwano ethile polypeptide icwangcisa kwezakhi - unit noshowo kwimfuza. DNA iqulethe yonke inkqubo yemfuza yophuhliso eziphilayo.

Xa iiseli nonsexual chromosome nganye zofuzo udade homologous ezifanayo kakhulu, kodwa hayi twatse kowokuqala. Ngexesha meiosis le zofuzo ukutshintsha amacandelo. Le nto ibizwa ngokuba 'crossover. " Le chromosome ekwanti elide ezimfutshane neengalo.

chromosome iseti

Cwangcisa zofuzo ye ephilayo kuthiwa karyotype. Ngokuqhelekileyo, umntu, njengokuba kuthiwe, lo karyotype inikwa zofuzo 46, 23 ukususela umzali ngamnye, kodwa wafumana anomaly apho karyotype umelwe ngokwahlukileyo. Le ukuhlukunyezwa ubizwa ngokuba "aneuploidy".

Aneuploidy - uhlobo karyotype apho inani zofuzo akalingani le yesiqhelo. Aneuploidy zofuzo, apho kungekho chromosome namnye ubizwa ngokuba monosomy. Ukuba akukho umphunga - nullisomiey. Ukuba, endaweni kwisibini eliqhelekileyo zofuzo homologous kwi karyotype kubonakala homologous ezintathu, lo trisomy. Naluphi na utshintsho kwinani zofuzo kubangela ukuphazamiseka kakhulu zophuhliso. Inxenye ke kubo lingakubulala.

zofuzo Aneuploidy nonsexual (autosomes)

Kukho izifo ezininzi yemfuza ukunisa aneuploidy. Imizekelo izifo ezifana - syndrome Down kaThixo, Patau syndrome, Edwards Syndrome. Zonke ezi zifo zibangelwa kukho chromosome engaphezulu ngababini ezahlukeneyo homologous. syndrome Down - yeyona ixhaphakileyo kwezi zifo. Kubonisa ukukhubazeka engqondweni, abangeva ngokwayo kunxibelelwano, ubunzima ekufundeni.

Noko ke, trisomy of chromosome-21, nto leyo ebangela esi sifo, alunasiphumo kwi sokuphila. Iiklasi kwi ubuchule ethile kunokunceda izigulane ukuphumelela abanye ekufundeni kunye elihle kwezentlalo.

Enye sifo, Patau syndrome, abangela aneuploidy. Oku okunzima - ziziphumo trisomy le chromosome 13. Izigulane kunqabile sisinde ukuya kwiminyaka-10, ngaphezulu kwama-80% kufa kunyaka wokuqala wobomi, abanye basokola ngenxa yokudodobala kakhulu engqondweni. Xa abantwana Patau syndrome ngayo microcephaly, zisoloko zineengxaki intliziyo, clouding kwenwebu yamehlo, inkalakahla yahlula, iindlebe into zikhubazekile.

Esona sizathu sokuba le syndrome Edwards naye aneuploidy - trisomy of chromosome 18. Ngaphezu kwama-90% abantwana nesi sifo kufa sisifo sentliziyo kunyaka wokuqala wobomi, abanye basokola ngenxa ukukhubazeka engqondweni kakhulu kwaye phantse uneducable.

Trisomy 16 chromosome kuxhaphake kakhulu kunokuba nayiphi na enye aneuploidy. Esi sifo kuyabulala, umbungu ufe esizalweni ngexesha kwiinyanga ezintathu zokuqala zokukhulelwa.

Aneuploidy abantu ukuze babonisane isifo esinqabileyo yemfuza - Varkani syndrome, trisomy of chromosome 8. The main Iimpawu - ukukhubazeka engqondweni, iziphene intliziyo, okungahambi skeletal.

Aneuploidy zofuzo sex

Uhlobo aneuploidy, leyo ayisoloko nemiphumela emibi kakhulu - kuba trisomy X chromosome. Loo kophulwa kuphela kwabasetyhini. Trisomy X-chromosome ndawo rhoqo - kwi 0.1% yabafazi. Isifo ukuze sibonakalise ubomi, olwenzeka xa malunga nama-30% amatyala. Kuba i-70% inzala luphawulwa mpawu zilandelayo: dyslexia, agraphia, intetho, kunye nezigulo intshukumo. Zifakwe kwiimeko ezinjalo, unyango kwangumqondiso siyasebenza kakhulu kwaye inceda ngokupheleleyo okanye inxalenye ukuphelisa ezi mpawu.

Ezinye mgaqweni ezinxulumene nenani zofuzo ngesondo, zizinto ezinkulu ngakumbi. Ezi ziquka Shereshevskoro syndrome - Turner, ityala okhethekileyo aneuploidy, apho kwi karyotype abafazi - omnye kuphela X chromosome endaweni eziqhelekileyo ezimbini. Iimpawu - ukukhubazeka engqondweni, omfutshane ngesithomo, uphuhliso kakuhle amalungu esini inokuba uhlobo wobulali yokudodobala kwengqondo.

Kukho esinye isifo kakhulu, nto leyo kubangelwa aneuploidy. It Klinefelter syndrome - ubukho enye okanye ezingaphezulu ngaphezulu X okanye Y zofuzo abantu. Iimpawu Awuveli de ekuqaleni ukufikisa. Phantse isiqingatha izigulane azinazo iimpawu kubo bonke ubomi babo, lo gama abanye wabona gynecomastia, ukutyeba, ukungachumi. Kwiimeko ezinqabe kakhulu, kukho ukukhubazeka engqondweni.

Izinto ezibangela aneuploidy

Aneuploidy kwenzeka ngenxa yokuba ngexesha meiosis le zofuzo homologous musa ahlukana, kwaye endaweni elinye gamete ibetheke iperi zofuzo, okanye unento namnye. Ukuba inani gamete eqhelekileyo zofuzo, kunye nezinye - ukudlathuka, lo karyotype elilodwa engaqhelekanga baya.

zofuzo epheleleyo homologous kunokuba ngenxa kweemeko ezingentle zokusingqongileyo, ukubekwa ubuthi yendalo eyahlukileyo. Kodwa ke isizathu yofuzo: kwiintsapho apho kubekho amatyala aneuploidy, ingozi yokuba umntwana kunye karyotype esingaqhelekanga iphezulu ngaphezu koko abazali esempilweni.

frequency

Sinokuthi ingozi esisiseko yokuba chromosomal aneuploidy-sifo kwi-avareji iphantsi, ekubeni zonke izifo kwezakhi ihlelwa ezinqabileyo. Amathuba iyonke yokuba umntwana kunye karyotype ukungaqheleki amagqabi-5% ukuba bobabini abazali nisempilweni. Ukuba omnye umzali na karyotype okungaqhelekanga, amathuba abagulayo ukunyuka lokuzalwa komntwana.

aneuploidies frequency kuxhomekeke chromosome. Eyona ixhaphakileyo karyotype engeyoyesiqhelo - Klinefelter engqondweni, chromosome sex aneuploidy, rhoqo ka 1 500 amakhwenkwe lutsha, ezinqabileyo - Varkani syndrome, aneuploidy of chromosome 8, nezihlandlo 1:50 000.

unyango

unyango aneuploidies usoloko nomqondiso. Xa Shereshevscky syndrome - Turner uthi ukukhula ephantsi kunye nokungabikho hormone ngesondo ababhinqileyo, kuba unyango kusetyenziswa steroid.

unyango syndrome Down likaThixo liye lancitshiswa izifundo kunye izigulane iinkqubo ezikhethekileyo ajolise kuphuhliso amakhono engqondweni.

Izigulane kunye syndrome Varkani kunqabile ukuya kwiminyaka engama-20. Ekuhambeni kwexesha, utshintsho yokwakheka entsha, ukukhubazeka engqondweni progressive. Ukuba kuyimfuneko, abe utyando ukuze alungise imeko kunye nonyango lwe contractures lomqolo.

Ukuba amantombazana kunye trisomy X-chromosome kukho ukulibaziseka wophuhliso intetho, kusenokufuneka babonane owayendifundisa ukuthetha. Kwimeko iingxaki zokubhala nokufunda kufuneka ubone dyslexia specialist.

Klinefelter syndrome akasoloko kuchaphazela umgangatho wobomi kwizigulane. Kwiimeko ezinqabe kakhulu, kukho ukukhubazeka engqondweni. Kuxhomekeka ukuba izinga (inobulali, alungise, kakhulu), inkqubo ngamnye yesifundo. Ukuba gynecomastia ibonakale, sinciphise umsebenzi ngokwesondo, nenzalo, koko wabhenela nonyango hormone.

ekuxilongweni

Chonga izifo zofuzo foetal ukuba kusetyenziswa iindlela ngeendlela (examination ultrasound, zengqo- bamakishi indlela).

Ngoncedo lwe ultrasound onokuchaza umbungu Down kaThixo syndrome kusekwangoko yophuhliso.

Non-invasive uxilongo siswini ye aneuploidy na indlela ekhuselekileyo kwaye echanekileyo nokumisela izinto ezingaqhelekanga karyotype kunokwenzeka. Le ndlela ilula - oyingcaphephe uphonononga iziqwenga DNA umntwana egazini sikanina. uxilongo invasive of aneuploidy luchanekile ngakumbi, kodwa uthwele umngcipheko isisu zidityaniswe, okwetyeli kuyo kuphela kwiimeko kakhulu.

Imiba ezandisa amathuba aneuploidy

Uphando lwakutshanje lubonise ukuba kukho ukungqinelana article phakathi kweminyaka koomama kunye namathuba okuba ngenene ukuba umntwana Down syndrome, syndrome syndrome Patau okanye Edwards. Okona mfazi, ayanda amathuba kokuzalwa komntwana wakhe kunye karyotype engaqhelekanga.

Ziziphi izinto zidlala indima ebaluleke kakhulu kuphuhliso zofuzo ngesondo aneuploidy ayaziwa. Kuthathwa ukuba indima ephambili kwiimeko ezinjalo bobabo yofuzo.