KumiswaIsayensi

Kokuhlukana Mutational nezinhlobo yokwanda koshintsho

Igama elithi "kuguquka" livela Latin elithi "mutatio", ngokwezwi nezwi elisho - ushintsho noma ushintsho. kokuhlukana Mutational kubonisa ukuhlela kabusha ozinzile futhi esobala zofuzo uboniswa izici sitholwa njengefa. Lesi isixhumanisi kuqala ukwakheka iketango pathogenesis izifo sitholwa njengefa. Lesi simo esiyingqayizivele sibangelwa ubelokhu bafundelwa isigamu kwekhulu lama-20 yesibili, futhi manje abaningi ngokuvamile ungezwa ukuthi kokuhlukana mutational kufanele wafunda kanye nokwazi nokuqonda lokhu indlela iba nganqoba izinkinga zesintu.

Kunezinhlobo eziningana izakhi zofuzo okuqondiswa kumaseli. ngezigaba zabo incike zezintaka amaseli ngokwabo. ukuguqulwa kwezakhi zofuzo okuzala zenzeka kumaseli lwegciwane, amaseli germline futhi akhona. Noma yiziphi izinguquko zizuzwe futhi ngokuvamile atholakala amaseli inzalo, izizukulwane ngezizukulwane sidlulile eziningi ngeziphambeko okwagcina ibe imbangela isifo.

ukuguqulwa kwezakhi zofuzo ukuphathwa kwabathintwayo namangqamuzana asexual. engavamile wabo ukuthi zivela kuphela kumuntu oye wabonakala. okungukuthi izinguquko kungukuthi ngofuzo kwamanye amaseli, kodwa kuphela uma ihlukaniswe emzimbeni munye. Ukuphathwa kwabathintwayo kokuhlukana mutational kubonakala zile uma iqala kusaqalwa. Uma kuguquka kwenzeka kusaqalwa yokuwela zygote, kukhona emikhulu cell imigqa sihluke nomunye genotypes. Ngakho, isikhathi eside amaseli azoqukatha kuguquka, eziphilayo zokuphumula ezinjalo zibizwa ngokuthi KaMose.

Amazinga izakhiwo zofuzo

kokuhlukana Mutational kubonakala izakhiwo zofuzo ahlukene amazinga ehlukene inhlangano. Ukuguqula izakhi zofuzo kwenzeke isakhi sofuzo, chromosome kanye ufuzo ezingeni. Kuye lolu shintsho kanye nezinhlobo wezakhi.

izinguquko bofuzo kuthinte isakhiwo DNA, lapho iguquka ezingeni yamangqamuzana ezinto eziphilayo. Izinguquko ezinjalo, ngakho, kwezinye izimo musa kuthinte ukusebenza amaprotheni, okungukuthi, umsebenzi akashintshi. Kodwa kwezinye izimo, kungase kube nemfundo elibi kakade okuvimba amaprotheni ukwenza umsebenzi walo.

Kwezakhi ezingeni chromosomal kakade baphathe usongo olukhulu ngoba kuthinta kumiswa izifo chromosomal. Waba yini umphumela walesi uba izinguquko isakhiwo wama-chromosomes, futhi kukhona kakade izakhi zofuzo eziningana ezihilelekile. Ngenxa yalokhu, kungase ukushintsha isethi evamile diploid, nakho kungaba nomthelela DNA Imininingwane.

ukuguqulwa kwezakhi zofuzo ocwaningweni kanye le-chromosome kungabangela kumiswa isifo chromosomal. Izibonelo kuguquka kulelizinga - aneuploidy futhi polyploidy. Lesi sengezo noma ukwehla inani lezakhi zofuzo ukuthi umuntu cishe bayoba ezibulalayo.

Zofuzo uyalandisa trisomy, etshengisa khona-chromosomes ezintathu homologous ku karyotype (ukwanda lemali). Imiphumela kuka okunjalo kwetinhlavu Edwards Syndrome futhi Down Syndrome. Monosomy kusho khona kuphela omunye chromosome amabii homologous (ukwehla lemali), cishe ekuqedeni ukuthuthukiswa evamile umbungu.

Imbangela kulezi zinkanyezi ukwephula at zokukhula ezihlukene lwegciwane amaseli. Lokhu kwenzeka ngenxa ukubambezeleka anaphase - Ama-chromosomes e homologous ngesikhathi cell division hambisa Kuma-pole, futhi omunye wabo angase ukuhambisana. Kukhona umqondo 'non-disjunction ", lapho-chromosome ayikwazanga ihlukaniswe izigaba mitosis noma meiosis. Lokhu kuphumela obala iziyaluyalu kobukhulu obuhlukahlukene. Lolu cwaningo zalesi simo kuzosiza ukwembula izindlela, futhi cishe ngeke wenze kunendlela ukubikezela kanye nomthelela kilelihlelo.

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