Izifo ze-Chromosomal ziyizifo zendalo, ezibangelwa ushintsho kwisakhiwo noma inombolo yama-chromosomes. Leli qembu lezifo lihlanganisa nalabo abangelwa ukushintshashintsha komzimba. Kukhona izifo ngenxa yezinguquko ezenzeka kumaseli ezocansi zabazali.
Umqondo wezifo ze-chromosomal
Leli qembu elikhulu lezinkinga zokubeletha, okuyinto inesinye sezikhundla ezihola ohlwini lwama-pathologies wefa. Ucwaningo lwe-cytological ngezinto ezisuka ekukhipha isisu kuqala lubonisa ukuthi izifo zomshoshaphansi ze-chromosomal zingazibonakalisa ngokwazo ngisho nasemibungu. Okokuthi, lesi sifo siqala inqubo yokukhulelwa noma ekuqaleni kwezinyathelo zokuhlukaniswa kwe-zygote.
Izinhlobo zezifo ze-chromosomal
Ochwepheshe bajwayele ukuhlukanisa zonke izifo zibe yizinhlobo ezintathu ezinkulu. Ukuhlukaniswa kwezifo ze-chromosomal kuncike ekuphuleni:
- i-ploidy;
- inani lama-chromosomes;
- isakhiwo sama-chromosomes.
Izinkinga ezivame kakhulu ezibangelwa ukuphulwa kwe-ploidy - i-triploid ne-tetralopodium. Izinguquko ezinjalo, njengombuso, zihleliwe kuphela ekufundeni okutholakala ngenxa yokukhipha isisu. Kuphela okwenzekayo ukuzalwa kwezingane ezinezinkinga ezifanayo kuphela, futhi bephazamise njalo umsebenzi wokuphila ovamile. I-triploidy yimbangela yokukhulelwa kwama-diploid ama-ovules ne-haploid spermatozoa noma ngokuphambene nalokho. Ngezinye izikhathi i-anomaly yimbangela yokukhulelwa kwe-ovum eyodwa ne-spermatozoa.
Inkinga yenombolo ye-Chromosome
Ezimweni eziningi, izifo ze-chromosomal, ezibangele ukuphulwa kwenani lama-chromosomes, ziboniswa yi-monosomy noma i-trisomy yonke. Ekugcineni, zonke izinhlaka ezintathu ze-nucleoprotein ziyi-homologists. Ku-anomaly yokuqala yenani lama-chromosomes, enye yezinto ezimbili ezitholakalayo kulesi sethi ihlala ejwayelekile. I-monosomy yonke i-chromosome X kuphela, ngoba imibungu namanye ama-sets afa kakhulu kakhulu - ngisho nasezigaba zokuqala zokuthuthukiswa kwe-intrauterine.
Ukuphazanyiswa kwesakhiwo se-chromosome
Izifo ezithuthukisa ngemuva kwesizinda se-chromosome sakhiwo zimelelwa iqembu elikhulu lama-syndromes nge-mono- noma i-trisomy eyingxenye. Zivuka uma kunezinguquko zesakhiwo kumaseli omzimba womzali. Ukuphazamiseka okunjalo kuthinta izinqubo zokubuyisela. Ngenxa yalokhu, ku-meiosis, kukhona ukulahlekelwa noma ukukhululeka kweziqephu zakhiwo ze-nucleoprotein. Ukungafani kahle kwe-chromosomal kungabonwa kunoma yiziphi i-chromosomes.
Izimbangela zezifo ze-chromosomal
Ososayensi isikhathi eside basebenze kule nkinga. Njengoba kwenzeka, ukuguqulwa kwe-chromosomal yesizathu sesifo. Ziholela ekuphambukeni kwesakhiwo kanye nemisebenzi yezinhlaka ze-nucleoprotein. Yazi kuphela izimbangela zezifo ze-chromosomal, kodwa futhi nezici ezinamandla okubonisa ukuguqulwa komzimba. Inani linalo:
- izici ze-anomaly ezihilelekile;
- i-genotype yemvelo;
- uhlobo lwe-anomaly;
- ubukhulu bezinto eziphilayo ezingekho noma ezidlulayo (ngokuphazamiseka kwesakhiwo);
- i-degree of mosaic yeselula yezinto eziphilayo (kuphela lezo amangqamuzana eziye zaphambene nesakhiwo noma imisebenzi zicatshangelwa).
Izifo ze-Chromosomal - Uhlu
Unyaka ngamunye, kubuyekezwa ngamagama amasha - izifo ziphenywa njalo. Ukucabangela ukuthi yiziphi izifo ze-chromosomal, odume kakhulu namuhla:
- Down Syndrome. Ivela ngenxa ye-trisomy. Okusho ukuthi, kumaseli kukhona amakhophi amathathu we-chromosome engama-21, kunokubili. Njengomthetho, isakhiwo "esingenasisekelo" sidluliselwa kosana olusuka kumama.
- I-Klinefelter's syndrome. Lesi sifo se-chromosomal asiveli ngokushesha ngesikhathi sokuzalwa, kodwa emva kokuphela kokuzalwa. Ngenxa yalokhu kuphazamiseka, amadoda athola kusuka ku-X kuya kwezingama-chromosomes amathathu futhi alahlekelwa ithuba lokuba nezingane.
- I-Myopia. I-Myopia iyaphambukiswa ngokwezakhi zofuzo, ngenxa yokuthi isithombe sakhiwe hhayi lapho kufanele sibe khona - kwi-retina yeso - kodwa phambi kwayo. Isizathu esiyinhloko sale nkinga ukunyuka kweso le-eye ngobude.
- Faka umbala oyimpumputhe. Imibala eyimpumputhe ayikwazi ukuhlukanisa imibala eyodwa noma eminye ngesikhathi esisodwa. Isizathu - kwi-chromosome "engalungile" X, etholwe kumama. Ngesikhathi sobulili obunamandla, lokhu kuhlukana kwenzeka kaningi, ngoba njengabantu, isakhiwo se-X sinye kuphela, futhi "ukulungisa isici" - njengoba kwenzeke esimweni sezinhlobo zezinsikazi - amangqamuzana awo akakwazi.
- I-Hemophilia. Izifo ze-Chromosomal zingabonakaliswa ngokuphulwa kwegazi elihlanganisiwe.
- I-Migraine. Lesi sifo, esibonakaliswe ubuhlungu obukhulu ekhanda, sizuzwe njengefa.
- I-cystic fibrosis. Ngenxa yalesi sifo ukuphulwa kwezingqungquthela zokufihla kwangaphandle. Abantu abanalo ukuxilongwa bahlushwa ukujuluka ngokweqile, ukuhlukana okukhulu kwe-mucus, ukuqoqwa emzimbeni nokuphazamisa ukusebenza kahle kwemaphaphu.
Izindlela zokuxilongwa kwezifo ze-chromosomal
Ukubonisana nge-Genetic, njengomthetho, funa usizo kulezi zindlela:
- I-Genealogical. Kuyinto ukuqoqwa nokuhlaziywa kwedatha kwisiguli somzali. Le ndlela yenza kube lula ukuqonda ukuthi ngabe lesi sifo sifa futhi uma kunjalo, sinquma uhlobo lwefa.
- Ukuxilongwa kokubeletha. Ukhomba ukuphazamiseka kokuzalwa kwe-fetus, esesibelethweni ngesikhathi samaviki angu-14 kuya ku-16 kokukhulelwa. Uma okungajwayelekile emithonjeni yama-amniotic kutholakala ngama-autosomes, isisu singenziwa.
- I-Cytogenetic. Isetshenziselwe ukubona ukuhlukumeza nokungajwayelekile.
- I-biochemical. Ukucacisa lesi sifo futhi kusize ukukhomba izakhi zofuzo eziguquguqukayo.
Ukwelashwa kwezifo ze-chromosomal
Ukwelashwa akusizi ngaso sonke isikhathi ukuqeda lesi sifo, kodwa kunganciphisa. I-Chromosomal engavamile ye-fetus iphathwa ngezindlela ezinjalo:
- I-Dietotherapy. Iqala ukufaka noma ukukhipha ekudleni kwezinto ezithile.
- Ukwelashwa kwezidakamizwa. Isetshenziselwa ukuthonya izindlela zokuqamba kwe-enzyme.
- Ukwelapha okuhlinzwa. Siza ukubhekana nokukhubazeka kwenhliziyo okuzalwa , izifo ezihlukahlukene zamathambo nama-deformities.
- Ukwelashwa kwesakhiwo. Isisekelo salo sisezinxephezelo zalezo zinto ezingakhiwa emzimbeni ngokuzimela.
Ukuvama kwezifo ze-chromosomal
Ngokuvamile, ukukhubazeka kwe-chromosomal yabantu kwenzeka ezintweni ezitholakale ngenxa yokukhipha isisu okuzenzakalelayo okwenziwa ku-trimester yokuqala. Ukuvama kwenani labantu jikelele empeleni akuyona into enhle kakhulu futhi kungu-1%. Izingane ezinokukhubazeka kwezakhi zofuzo zingabuye zizalwe kubazali abanempilo. Amantombazane nezinsana ezisanda kuzalwa, njengoba kubonisa ukuhlolwa kwezokwelapha, zithinteka yizifo ze-chromosomal enevaysi efanayo.