ImpiloImithi

Aneuploidy - a ... Aneuploidy: incazelo, izimbangela, izimpawu, kanye uhlobo oluthile lokwelashwa

Aneuploidy - a kofuzo okuyinto amangqamuzana omzimba ibe inombolo okungavamile chromosome. Ukuze ufunde kabanzi mayelana nendlela sibonakalise aneuploidy futhi yiziphi izimbangela zayo, ahlaziye kafushane ukuma kwengqamuzana Ophilayo, kuyi-nucleus yengqamuzana futhi chromosome ngokwabo.

Nasi theory

Njengoba wazi, kuzo zonke cell ukuphathwa kwabathintwayo zomzimba womuntu ijwayelekile Ama-chromosomes e-46, okungukuthi diploid. Kuphela kumaseli lwegciwane, kule sethi olulodwa. Ngokuvamile ama-chromosome zitholakala kuyi-nucleus yengqamuzana futhi eside, skompaktizovannuyu DNA Helix. DNA, esikhundleni salokho, yakhiwa monomers - polypeptides. Ezithile polypeptide ukulandelana usetha isakhi sofuzo - iyunithi isakhi sofuzo. DNA iqukethe wonke uhlelo kwezakhi ukuthuthukiswa umzimba.

Ngo amaseli nonsexual chromosome ngayinye kukhona homologous udade Ama-chromosomes e ezithi azifane, kodwa hhayi liyefana yini kuqala. Phakathi meiosis chromosome bashintshisane izigaba. Lesi senzakalo ngokuthi 'crossover. " I-chromosome angawodwa izingalo eside futhi esifushane.

chromosome isethi

Setha wama-chromosomes i umzimba ibizwa ngokuthi karyotype. Ngokuvamile, umuntu, njengoba kuye kwashiwo, le karyotype uvezwa Ama-chromosomes e-46, 23 kusukela umzali ngamunye, kodwa wathola anomaly lapho karyotype umelwe ehlukile. Lokhu ukuhlukumeza ibizwa ngokuthi "aneuploidy".

Aneuploidy - uhlobo karyotype lapho inani lezakhi zofuzo akulingani okuvamile. Aneuploidy wama-chromosomes, lapho kungekho-chromosome eyodwa kubizwa ngokuthi monosomy. Uma kungekho umusi - nullisomiey. Uma, esikhundleni umbhangqwana evamile wama-chromosomes homologous ku karyotype livela ezintathu homologous, lokhu trisomy. Noma iluphi ushintsho ebaleni inani lezakhi zofuzo kubangela iziyaluyalu ezinzima zentuthuko. Ezinye zazo kungenzeka yingozi.

Ama-chromosomes e Aneuploidy nonsexual (autosomes)

Kukhona izifo eziningi zofuzo ezibangela ke aneuploidy. Izibonelo izifo ezifana - Down Syndrome, Patau syndrome, Edwards Syndrome. Zonke lezi zifo ezibangwa khona-chromosome eyengeziwe ngazimbili ezahlukene homologous. Down syndrome - ezivamile salezi zifo. It kubonakala retardation engqondo, abanokukhubazeka ekuxhumaneni, ukufunda nobunzima.

Nokho, trisomy ne-chromosome 21, elibangela lesi sifo, akunamthelela bempilo. Amakilasi ku namakhono athile kungasiza iziguli impumelelo ezinye ekufundeni futhi komphakathi.

Esinye isifo, Patau syndrome, futhi kubangela aneuploidy. Lokhu okunzima - umphumela trisomy we-chromosome 13. Iziguli kuyaqabukela ukusinda iminyaka engu-10, angaphezu kuka-80% die ngonyaka wokuqala wokuphila, abanye baphathwa retardation kakhulu engqondweni. Ngo izingane Patau syndrome uzwakalise microcephaly, zivame ukuba nezinkinga inhliziyo, ingaphazamisi corneal, ulwanga yokuhlukanisa, izindlebe ngandlela-thile sikhubazekile.

Isizathu esikhulu lesi sifo Edwards futhi aneuploidy - trisomy chromosome 18. Bangaphezu kuka-90% izingane ezinalesi sifo ziyafa kusuka senhliziyo onyakeni wokuqala wokuphila, abanye baphathwa retardation kakhulu engqondweni kanti cishe uneducable.

Trisomy 16 chromosome kuvamile ngaphezu kwanoma yimuphi omunye aneuploidy. Lokhu kofuzo kuyabulala, umbungu ufe esibelethweni ezinyangeni zokuqala ezintathu zokukhulelwa.

Aneuploidy e abantu bangase balwisane ongavamile isifo esidluliselwa ngofuzo - Varkani syndrome, trisomy chromosome 8. Izimpawu main - retardation engqondo, ukukhubazeka inhliziyo, anomalies lwamathambo.

Aneuploidy wama-chromosomes ucansi

Ngohlobo Lomuntu Okufanele Ube aneuploidy, okungadingi njalo kungaholela emiphumeleni engathí sina - I-trisomy X chromosome. ukuhlukumeza okunjalo kuphela abesifazane. Trisomy X-chromosome kuqhathaniswa njalo - at 0.1% abesifazane. Lesi sifo angase ayizange ibonise kukho konke ukuphila, okuyinto eyenzeka ngo-30% we amacala. Ukuze asele 70% interest libhekene zimpawu ezilandelayo: i-dyslexia, agraphia, yekukhuluma, kanye ukunyakaza iziyaluyalu. Zifakwe ezimweni ezinjalo, impatho lingaze siyasebenza kakhulu futhi kuyasiza ngokuphelele noma ingxenye ukuqeda lezi zimpawu.

Okunye anomalies elihlobene ne inani lezakhi zofuzo ubulili, mabi kakhulu. Lezi zihlanganisa Shereshevskoro syndrome - Turner, ibe yintfo lekhetsekile aneuploidy, lapho ku karyotype abesifazane - eyodwa kuphela X chromosome esikhundleni ezejwayelekile ezimbili. Izimpawu - retardation engqondo, onesiqu esifushane, ukuthuthukiswa kahle kwezitho zobulili kungaba sibi retardation engqondo.

Kunenye lwesifo esibi, okuyinto kubangelwa aneuploidy. It Klinefelter syndrome - khona eyodwa noma xaxa X noma Y-chromosomes e amadoda. Izimpawu awaveli kwaze kwaba sekuqaleni nezingokomzwelo zokuthomba. Cishe isigamu iziguli azinazo izimpawu ezisheshe zibonakale konke ukuphila kwabo, kanti abanye waphawula gynecomastia, ukukhuluphala, ukungazali. Ezimweni ezingavamile, kukhona retardation engqondo.

Izimbangela aneuploidy

Aneuploidy kwenzeka ngenxa yokuthi ngesikhathi meiosis chromosome homologous musa behlukana, futhi esikhundleni kweyodwa gamete hit pair wama-chromosomes, noma uye got noyedwa. Uma inombolo gamete evamile wama-chromosomes, kanye nezinye - ukuqothuka kwezinwele okungavamile kuphelile, ukuqothuka kwezinwele okungavamile kuphelile karyotype zygote kuthanda.

Ama-chromosomes e ngiyinake homologous kungaba ngenxa yezimo ezingezinhle kwemvelo, ukuchayeka ezintweni ezinobuthi bemvelo ezahlukene. Kodwa ngokuvamile isizathu ufuzo: emikhayeni kuye kwaba namacala aneuploidy, ingozi yokuba ingane nge karyotype normal kunakunoma abazali enempilo.

imvamisa

Singasho ukuthi ingozi eziyisisekelo of chromosomal aneuploidy-isifo ngokwesilinganiso liphansi, njengoba zonke izifo zofuzo umuntu ihlukaniswa njengoba ezingavamile. Amathuba jikelele kokuba ingane nge karyotype angahlangani eshiya 5% uma bobabili abazali ziphilile. Uma omunye umzali unazo karyotype normal, ematfuba ogulayo ingane lokuzalwa iyakhula.

aneuploidies imvamisa incike chromosome. Okuvame kakhulu angahlangani karyotype - Klinefelter Syndrome, chromosome ubulili aneuploidy, imvamisa 1 e 500 izinsana, ezingavamile kakhulu - Varkani syndrome, aneuploidy chromosome 8, ukuvama 1:50 000.

ukwelashwa

ukwelashwa aneuploidies uhlale lingaze. Lapho Shereshevscky syndrome - Turner uthi ukukhula ongaphakeme nokuntuleka hormone ocansini owesifazane, ngoba impatho esetshenziswa Ama-anabolic steroid.

ukuphathwa syndrome Down kuyehla kube izifundo neziguli kanye nezinhlelo ezikhethekile okuhloswe ngazo ukuthuthukisa amakhono lolwazi.

Iziguli sifo Varkani akuvamile aphila iminyaka engaba ngu-20. Ngokuhamba kwesikhathi, izinguquko yokwakheka entsha, retardation okuqhubekayo engqondo. Uma kudingekile, noma aphendukele ekuthengiseni uhlinzwe ukuze kulungiswe isimo kanye nokwelashwa kwe-contractures emgogodleni.

Uma amantombazane nge trisomy X-chromosome kukhona ukubambezeleka of zokukhuluma, kungase kudingeke uxhumane nodokotela osiza abanezinkinga zokukhuluma. Uma izinkinga nge zibhalwe futhi ukufunda Kufanele ubone dyslexia onguchwepheshe.

Klinefelter syndrome musa njalo kuthinte izinga lokuphila iziguli. Ezimweni ezingavamile, kukhona retardation engqondo. Kuye ngezinga yayo (imnene, ngokulinganisela, ezinzima), uhlelo ngabanye zokutadisha. Uma i-manifest gynecomastia, kwehle umsebenzi zocansi, ukungazali, ke yakhetha yokwelapha i-hormone.

ukuhlola

Thola izifo fetus zofuzo kungenziwa ngokusebenzisa izindlela ezihlukahlukene (ultrasound luhlolo, kwamakhemikhali nakomaka indlela).

Ngosizo ultrasound kungembula-fetus Down Syndrome ngendlela efanele usaqala yentuthuko.

Non-koda ukuxilongwa kokubeletha ka aneuploidy indlela ephephile futhi olunembile yokunquma kungenzeka karyotype kwezinso. Indlela ilula - onguchwepheshe uhlola izingcezwana DNA ingane egazini likamama. Imiphumela yaloku kuhlola okungenhla koda we aneuploidy linembile ngaphezulu, kodwa athwala ingozi isisu nokuguqulwa, noma aphendukele ekuthengiseni kuphela ezimweni ezimbi kakhulu.

Izici ezandisa amathuba aneuploidy

Ucwaningo lwamuva nje okuye kwenziwa kuye kwabonisa ukuthi kukhona ukuhlanganisa ocacile phakathi ubudala komama kanye ematfuba kokuba ingane ene-Down syndrome, syndrome Patau Syndrome noma Edwards. Omdala owesifazane, ayanda ematfuba ukuzalwa kwenye ingane yakhe nge karyotype ongaphilile.

Iziphi izici sinendima ebalulekile ekuthuthukiseni ukubhalwa ubulili-chromosomes aneuploidy alwaziwa. Kusolwa ukuthi indima ebalulekile ezimweni ezinjalo kungokwalabo ufuzo.

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