I-Aneuploidy yimeko apho iseli inenani elingalunganga lama-chromosomes. I-Aneuploidies yimbangela eqhelekileyo yokukhulelwa komzimba, ngakumbi ekukhulelweni kokuqala.
Ukuqonda amaCromosomes
Ukuze uqonde ukuba yi-aneuploidy, kuya kufuneka ufunde okokuqala ngama-chromosomes. I-Chromosomes ziyizakhiwo eziqukethe i-DNA yethu. Zifumaneka kwi-nuclei yazo zonke iiseli zethu.
Iiseli zomntu eziqhelekileyo zinama-chromosomes angama-46 anamaqela angama-23 e-chromosome. Isiqingatha se-chromosomes yethu sivela koomama kunye nesiqingatha esivela koobawo.
Iimbini ze-chromosome zokuqala ezingama-22, ezibizwa ngokuthi i-autosomes, zifana nabadoda kumabhinqa. Ibini le-23 libandakanya i-chromosomes yesini. Kula mabhinqa, eli sibini i-X i-chromosomes. Kwindoda, eli bini li-X ne-Y chromosome.
Yintoni i-Aneuploidy?
Kwi-aneuploidy, iseli ineekopi ezintathu ze-chromosome (ezenza ama-chromosomes angama-47 apheleleyo) okanye ikopi enye ye-chromosome ethile (okubangelwa kuma-chromosomes angama-45). Ikopi eyongezelelweyo ye-chromosome ibizwa ngokuba yi-trisomy; ikopi ekhoyo ebizwa ngokuba yi-monosomy.
Naluphi na utshintsho kwinani lama-chromosomes kwi-sperm okanye kwiqanda leqanda linokuchaphazela umphumo wokukhulelwa. Ezinye i-aneuploidi zingaholela ekuzalweni okuphilayo, kodwa ezinye zibulala kwi-trimester yokuqala kwaye azikwazi ukukhokelela kumntwana onobomi.
Kuqikelelwa ukuba ngaphezulu kweepesenti ezingama-20 zokukhulelwa zi nokuba ne-aneuploidy.
Uninzi lwezi khulo alukwazi ukusebenza kwaye ke aluyi kubangela umntwana.
Ngaphambi kweveki yeshumi yokukhulelwa, i-aneuploidies yimbangela eqhelekileyo yokukhulelwa kwamathambo.
Izizathu
Iimpembelelo zendalo zingakwazi ukwenza i-chromosomal engafanelekanga, kodwa izazinzulu zikholelwa ukuba ezininzi iziganeko ze-aneuploidy zibangelwa ziziphoso ezingaqhelekanga kwisahlulo seseli.
Uninzi lwexesha, nangona ukuvavanya kwe-chromosomal emva kokusweleka komzimba kubonisa ukuba umntwana uthintekile nge-aneuploidy, i-aneuploidy ayiyi kuphinda ikhulelwe.
Indlela i-Trismi ichaphazela ngayo ukukhulelwa
Iifrimi (ikopi eyongezelelweyo ye-chromosome) ixhaphake ngaphezu kwee-monosomi (ikopi engekho). Uninzi lweengxaki luphumela ekuphumuleni komzimba. Enyanisweni, banembopheleleko malunga neepesenti ezingama-35 zezinto ezilahlekileyo.
Ngaphantsi kwepesenti enye yabantu bazalwa benesifo. Kukho imiphumo ebalulekileyo yempilo ye-chromosome engafanelekanga kula bantu.
Zizinto ezimbalwa kuphela ezinokubangela ukuzalwa okuphilayo. Into eqhelekileyo yi-trisomy 21, eyaziwa ngokuba yi-Down syndrome. Elinye i-autosomal (i-chromosome engeyiyo yesini) i-trisomi eyenziwa ngamanye amaxesha yintsana i-trisomy 13 ne-18. Ngelishwa, iintsana ezizalwe nalezi zifo zivumi.
Iintsana ezizalwe ngesifo esithile se-chromosome yesifo sokwabelana ngesondo singaphila kubantu abadala. Amadoda azalwe ngama-chromosomes e-2 kunye ne-Y ye-chromosome enye i-syndrome ka-Klinefelter, ene-aneuploidy eqhelekileyo emva kwe-Down syndrome. Amadoda angaphinde aphile kunye ne-X kunye ne-YY i-chromosomes ezimbini kunye namabhinqa anama-chromosomes amathathu.
Ngokuphathelele i-monosomi - into echasene neengxaki zesifo-esisodwa sibangela ukuzalwa okuphilayo.
Le yile x i-chromosome enye kwi-females, eyaziwa ngokuba yi- Turner's syndrome .
Kwaziwa nangokuthi : Ama- Aneuploidies, i-Trisomy, i-Monosomy, i-Chromosome engaqhelekanga
Imithombo:
Mangaphi ama-chromosomes abantu abanayo? I-Reference Reference Home. ILayibrari yeSizwe ka-US yamayeza. NgoFebruwari 1, 2016.
Iphepha le-Chromosomes Fact Sheet. I-National Human Genome Research Institute. NgoJuni 16, 2015.
O'Connor, C. (2008) I-Chromosomal engafanelekanga: i-Aneuploidies. Imfundo Yendalo 1 (1): 172
Rai, R., Regan, L. (2006). Ukutshatyalaliswa okuqhelekileyo. Lancet.