I-Aneuploidy yisimo lapho iseli sinenombolo engalungile yama-chromosomes. I-Aneuploidies iyimbangela evamile yokukhulelwa kwesisu, ikakhulukazi ekukhulelwe kokuqala.
Ukuqonda ama-Chromosomes
Ukuze uqonde ukuthi yini i-aneuploidy, kuzodingeka uqale ufunde ngama-chromosomes. I-Chromosomes yizinhlaka eziqukethe i-DNA yethu. Zitholakala ku-nuclei yazo zonke amaseli wethu.
Amangqamuzana omuntu avamile anama-chromosomes angu-46 anama-23 angama-chromosome. Ingxenye yama-chromosomes ethu avela kumama wethu nenye isigamu evela kobaba.
Ama-22 womabili we-chromosome, okuthiwa i-autosomes, afana namadoda emadodeni. Leli bhokisi lama-23 linama-chromosomes wesini. Kubesifazane, lo mbhangqwana ungama-chromosomes amabili e-X. Emadodeni, lo mbhangqwana u-X ne-Y chromosome.
Yini Engenayo I-Aneuploidy?
Nge-aneuploidy, iseli linamakhophi amathathu we-chromosome ethile (okuphumela kuma-chromosomes angu-47 aphelele) noma ikhophi eyodwa ye-chromosome ethile (okubangelwa ama-chromosomes angu-45). Ikhophi eyengeziwe ye-chromosome ibizwa ngokuthi i-trisomy; ikhophi elahlekile ibizwa ngokuthi i-monosomy.
Noma yikuphi ukuguqulwa kwinani lama-chromosomes ku-sperm noma i-egg cell kungathinta umphumela wokukhulelwa. Amanye ama-aneuploidies angabangela ukuzalwa okuphilayo, kodwa amanye abulalayo ku-trimester yokuqala futhi angeke akhiphe umntwana onamandla.
Kulinganiselwa ukuthi abangaphezu kuka-20 amaphesenti wokukhulelwa bangase babe ne-aneuploidy.
Eziningi zalezi zikhukhula azikwazi ukusebenza futhi ngeke ziholele umntwana.
Ngaphambi kwesonto leshumi lokukhulelwa, ama-aneuploidies iyimbangela evamile yokukhubazeka.
Izimbangela
Amathonya angokwemvelo angakwazi ukubangela ukungahleleki kwe-chromosomal, kodwa ososayensi bakholelwa ukuthi amacala amaningi we-aneuploidy asuka kumaphutha okungahleliwe ku-division division.
Esikhathini esiningi, ngisho nalapho ukuhlolwa kwe-chromosomal ngemuva kokukhulelwa kwesisu kuveza ukuthi ingane ishintshwe yi-aneuploidy, i-aneuploidy ayibuyeli esikhathini esizayo sokukhulelwa.
Indlela Ama-Trismies Athinta Ngayo Ukukhulelwa
Ama-trisomi (ikhophi eyengeziwe ye-chromosome) evamile kakhulu kunama-monosomi (ikhophi elahlekile). Iningi lama-trisomi liholela ekukhulelweni kwesisu. Eqinisweni, banesibopho sezingxenye ezingamaphesenti angu-35 eziphutha kabi.
Amaphesenti angaphansi kweyodwa abantu azalwa ngamatrismi. Kunemiphumela ephawulekayo yempilo yezinto ezingavamile ze-chromosome kulaba bantu.
Izibalo ezimbalwa kuphela ezingabangela ukuzalwa okuphilayo. Okuvamile kakhulu i-trisomy 21, eyaziwa njenge-Down syndrome. Amanye ama-autosomal (ama-chromosome angewona ucansi) angama-trisomy angu-13 no-18. Ngeshwa, izinsana ezizalwe nalezi zinhlungu ngokuvamile azihlali.
Amantombazane azalwe ngamathambo athile e-chromosome ocansini angaphila kubantu abadala. Abesilisa ababelethwe ngama-chromosome amabili e-X ne-Y chromosome eyodwa babe ne-Klinefelter's syndrome, e-aneuploidy ejwayelekile kakhulu ngemva kwe-Down syndrome. Amadoda angaphinde aphile ne-X kanye nama-chromosomes amabili we-YY namasifazane ane-X chromosomes amathathu.
Ngokuphathelene nobuhle - okuphambene nethrisomi - imiphumela eyodwa kuphela ekuzalweni okuphilayo.
Lena i-chromosome ye-X eyodwa kubesifazane, eyaziwa ngokuthi i- Turner's syndrome .
Futhi eyaziwa njenge: Aneuploidies, i-Trisomy, i-Monosomy, i-Chromosome engavamile
Imithombo:
Mangaki ama-chromosomes abantu abanayo? I-Genetics Home Reference. Ilabhulali Kazwelonke Yezokwelapha yase-US. Ngo-February 1, 2016.
Ama-Chromosomes Fact Sheet. I-National Human Genome Research Institute. Juni 16, 2015.
U-O'Connor, C. (2008) I-Chromosomal engavamile: Ama-Aneuploidies. Imfundo Yemvelo 1 (1): 172
URai, R., Regan, L. (2006). Ukususwa Kwezikhathi Ezivamile. I-Lancet.