Izifo ze-Chromosomal zizifo zendalo, ezibangelwa utshintsho kwisakhiwo okanye kwinani lama-chromosomes. Eli qela lezifo liquka oko kubangelwa ukuguqulwa kwamagciwane. Kukho i-pathologies ngenxa yeenguqu ezenzeka kwiiseli zesini zabazali.
Umxholo wezifo ze-chromosomal
Leli liqela elikhulu leempilo ezizalwe ngumzimba, ezithatha enye yezona ndawo zikhokelela kwiluhlu lwezityalo ezizalwe ngumntu. Izifundo ze-Cytological zezinto ezisuka ekuqaleni kokukhipha izisu zibonisa ukuba izifo zengqondo ze-chromosomal zikwazi ukuzibonakalisa ngokwabo kwimibusi. Okokuthi, lesi sifo siqhubeka kwinkqubo yokuchumisa okanye kwiinqanaba zokuqala zohgote.
Iintlobo zezifo ze-chromosomal
Iingcali zijwayele ukwahlula zonke izifo zibe ziintlobo ezinkulu ezintathu. Ukwahlulelwa kwezifo ze-chromosomal kuxhomekeke kuphulo-mthetho:
- ploidy;
- inani lama-chromosomes;
- isakhiwo sama-chromosomes.
Iimpazamo eziqhelekileyo ezibangelwa ukuphulwa kwe-ploidy-triploid kunye ne-tetralopodium. Olu tshintsho, njengommiselo, lugqityiweyo kuphela kwizinto ezifunyenwe ngenxa yesisu. Iziganeko ezizimeleyo kuphela zokuzalwa kwabantwana abanezifo ezifanayo ziyaziwa, kwaye zihlala ziphazamise umsebenzi wokuphila oqhelekileyo. I-Triploidy yiphumo lokuchumisa i-ovules ye-diploid nge-haploid spermatozoa okanye ngokuthe ngqo. Ngamanye amaxesha ukungabonakali kuyiphumo lokuchumisa enye i-ovum kunye ne-spermatozoa.
Ingxaki yenombolo yeChromosome
Kwiimeko ezininzi, izifo ze-chromosomal, ezibangele ukuphulwa kwenani lama-chromosomes, zibonakaliswa yi-monosomy okanye i-trisomy epheleleyo. Ekugqibeleni, zonke izakhiwo ezintathu ze-nucleoprotein zi-homologues. Kwimeko yokuqala ye-chromosomes, enye yezinto ezimbini ezikhoyo kwisethi ihlala isesiqhelo. Yonke i-monosomy iphela kwi-chromosome X, kuba ama-embrosi kunye nezinye iisethi ziyafa kusasa kakhulu - nakwiindawo zokuqala zokuphuhliswa kwe-intrauterine.
Ukuphazamiseka kwesakhiwo se-chromosome
Izifo eziphuhliswayo kwimvelaphi yesifo sengqondo se-chromosome zimelelwe liqela elikhulu leempawu ezixhamlayo kunye ne-mono- okanye i-trisomy. Ziyavela xa kukho utshintsho lwezakhiwo kwiiseli zesini zomzali. Ukuphazamiseka okunjalo kuthintela iinkqubo zokuhlaziya. Ngenxa yoko, kwi-meiosis, kukho ukulahleka okanye ukugqithiswa kweengcezu ze-nucleoprotein izakhiwo. Ukungaqhelekanga kwe-chromosomal ezingaqhelekanga kunokugqalwa kwiphina i-chromosomes.
Izizathu zezifo ze-chromosomal
Iingcali zenzululwazi ixesha elide zisebenza kule ngxaki. Njengoko kwavela, ukuguqulwa kwe-chromosomal kwesi sifo kubangelwa. Zikhokelela ekuphambukeni kwisakhiwo kunye nemisebenzi yendawo ye-nucleoprotein. Awazi nje kuphela izizathu zezifo ze-chromosomal, kodwa nazo izinto ezinokukwazi ukubonakalisa ukuguquka komzimba. Ixabiso li:
- iimpawu ze-anomaly ezibandakanyekayo;
- i-genotype yendalo;
- uhlobo lokungahambi;
- ubungakanani bezinto ezikhoyo ezingekhoyo okanye ezidlulileyo (kunye nokuphazamiseka kwesakhiwo);
- iqondo lomzobo weselula womzimba (kuphela ezo iiseli eziye zaphazamiseka kwisakhiwo okanye imisebenzi zithathwa ingqalelo).
Izifo ze-Chromosomal - Uluhlu
Unyaka ngamnye, ihlaziywa ngamagama amatsha-izifo ziphandwa rhoqo. Ukuqwalasela ukuba zeziphi izifo ze-chromosomal, eyaziwayo namhlanje:
- Down Syndrome. Ikhula ngenxa ye-trisomy. Oko kukuthi, kuba kuseli kukho iikopi ezintathu ze-chromosome engama-21, endaweni yesibini. Njengomthetho, isakhiwo "esingenasiphelo" sidluliselwa kwintsana evela kumama.
- Isifo sikaKlinefelter. Isi sifo se-chromosomal asibonakali ngokukhawuleza ngexesha lokuzalwa, kodwa emva kokuphela komntwana. Njengomphumo wale mpukelo, amadoda athola kwi-X kwi-chromosomes enye kwaye alahlekelwa ithuba lokuba nabantwana.
- Myopia. I-Myopia yindlela yokuphambuka kwezakhi zofuzo, ngenxa yeso sithombe esakhiweyo kungekhona apho kufuneka ukuba - kwi-retina yelihlo - kodwa phambi kwayo. Isizathu esibalulekileyo sale ngxaki kukunyuka kwamehlo ekude.
- Umbala ongaboniyo. Imibala eyimfama ayinakuhlukanisa enye okanye imibala emininzi kwangoko. Isizathu - kwi-chromosome "engafanelekanga" X, efunyenwe kumama. Ngesondo esomeleleyo, lo kuphambuka kwenzeka kaninzi, ngokuba njengabantu, isakhiwo se-X sinye kuphela, kwaye "ukulungisa isiphene" - njengoko kwenzeka kwiimeko zezilwanyana - iiseli zabo azikwazi.
- Hemophilia. Izifo ze-Chromosomal zingabonakaliswa ngokuphula umthetho wegazi.
- Migraine. Esi sifo, esibonakaliswe intlungu ebuhlungu entloko, sizuzwe njengefa.
- Cystic fibrosis. Kuba esi sifo kukuphulwa kweengqungquthela zangaphandle. Abantu abanolu hlobo lokuxilongwa baxhamla ngokukhupha okugqithiseleyo, ukuhlukana kakhulu kwe-mucus, ukuqokelela emzimbeni nokuphazamisa ukusebenza kakuhle kwemiphunga.
Izindlela zokufumanisa izifo ze-chromosomal
Ukubonisana nge-Genetic, njengomthetho, kufuna uncedo kwiindlela ezi:
- ZoLuntu. Kukuqokelela kunye nokuhlalutya kwedata kwisigidi-mgulana. Le ndlela yenza kube lula ukuqonda ukuba eso sifo sifa kwaye, ukuba kunjalo, sinquma uhlobo lwelifa.
- Ukuxilongwa kwangaphambili. Uchonga izidalwa zokuzalwa ezibelethwe ngumntwana, esesibelethweni ngexesha leveki ezi-14-16 zokukhulelwa. Ukuba ukungaqhelekanga kwi-amniotic fluid kuyabonwa ngama-autosomes, isisu singenziwa.
- Cytogenetic. Isetyenzisiweyo ukuchonga ama-syndromes kunye nokungaqhelekanga.
- Yezinto eziphilayo. Icacisa eso sifo kwaye sincede sichaze i-genetic genes.
Unyango lwezifo ze-chromosomal
Ulwaphulo aluhlali lukunceda ukususa eso sifo, kodwa sinokuyicotha. I-Chromosomal engafanelekiyo ye-fetus iphathwa ngeendlela:
- Dietotherapy. Kucinga ukongeza okanye ukukhutshwa ekudleni kwezinto ezithile.
- Ukusetyenziswa kweziyobisi. Isetyenziselwa ukuchaphazela iindlela ze-enzyme synthesis.
- Unyango o Unceda ukujamelana nokukhubazeka kwentliziyo yesisu , iintlobo ezahlukeneyo zethambo kunye nokukhubazeka.
- Ulwaphulo lwendawo. Ingundoqo yayo yintlawulo yezo zinto ezingenakulinganiswa kumzimba ngokuzimeleyo.
Ukuphindaphinda kwezifo ze-chromosomal
Ngokuqhelekileyo, ukungaqheleki komntu okungaqhelekanga kwenzeka kwizinto ezifunyenweyo ngenxa yokukhipha izisu ngokukhawuleza ezenziwe kwi-trimester yokuqala. Ixesha eliqhelekileyo lokuphulwa kwabemi ngokwenene alinkulu kwaye li-1%. Abantwana abanemizimba engafanelekanga nabo banokuzalwa nabazali abanempilo. Amantombazana amancinci kunye namakhwenkwe, njengento ebonisa unyango, abachaphazelekayo ngenxa yezifo ze-chromosomal ezifanayo.