Ukwahluka Mutational kunye neentlobo izakhi

Igama elithi "ukuguquka" livela kwigama "mutatio" Latin, igama elithetha - ukutshintsha okanye utshintsho. Ukwahluka Mutational ibonisa utshintsho ezizinzileyo ke lowo zofuzo uboniswa ku imikhwa njengelifa. Lo ikhonkco lokuqala ukusekwa chain kunye Pathogenesis kwezifo zamafa. Le meko iye ngenkuthalo kufundwe kwisiqingatha sesibini senkulungwane yama-20, yaye ngoku ngakumbi kwaye kaninzi uyakwazi ukuva ukuba Ukwahluka mutational kufuneka ifundwe kunye ulwazi nokuqonda le ndlela iba isitshixo neengcambu iingxaki zoluntu.

Kukho iindidi eziliqela ezenzeka kwiDNA iiseli. yokuhlelwa kwazo ixhomekeka kuhlobo iiseli ngokwabo. ukuguquka okuvelisa inzala kwenzeka iiseli yintsholongwane, iiseli germline khona. Naluphi na utshintsho azuze kwaye isoloko ifumaneka iiseli inzala, ikwizizukulwana ngezizukulwana sele udlule kwinani ezinxaxhileyo leyo ekugqibeleni ibe ngunobangela izifo ukusuka.

ukuguquka Somatic iiseli maqanda. peculiarity wabo ukuba kuvela kuphela umntu oye wabonakala. ie tshintsho ilifa ezinye iiseli, kodwa kuphela xa ahlulwe mzimba mnye. Ukwahluka Somatic mutational ibonakalisiwe zile xa iqala xa usaqala. Ukuba kuguquka kwenzeka xa nisaqala yokuwela elilodwa, kukho imigca iseli enkulu eyahlukileyo kwezinye genotypes ngalinye. Ngako oko, le elide iiseli yolihambisa elo ukuguquka, eziphilayo ezinjalo kuthiwa emihle.

Amanqanaba izakhiwo genetic

Ukwahluka Mutational kubonakala kuMthetho wamaSebe yemfuza ezahlukeneyo kumanqanaba ahlukeneyo mbutho. Imizila kungenziwa gene, chromosome kunye ufuzo inqanaba. Kuxhomekeka olu tshintsho kunye neentlobo wezakhi.

utshintsho Genetic ichaphazela isakhiwo DNA, apho itshintsha kwinqanaba eziphilayo. Olunjalo utshintsho, kwezinye iimeko zingakuchaphazeli ukuphumelela kwiproteni, ie, umsebenzi akatshintshi. Kodwa kwezinye iimeko, kusenokuba imfundo zonakeleyo ukuba sele ime neprothini ukwenza umsebenzi wayo.

Ngokuguqula imizila kwinqanaba chromosomal sele baphathe kuyingozi enkulu kuba kuchaphazela ukuyilwa izifo chromosomal. Isiphumo sale ezinombala utshintsho kubume zofuzo, kwaye kukho sele yemfuza ezininzi ababandakanyekayo. Ngenxa yoko, loo nto ingatshintsha iseti eqhelekileyo diploid, nto leyo ebinokuba nempembelelo kwi DNA iyonke.

ukuguquka lofuzo kwakunye chromosome kunokubangela ukuyilwa sifo chromosomal. Imizekelo zofuzo kweli nqanaba - aneuploidy kunye polyploidy. Le ukwanda okanye ukuncipha kwenani zofuzo ukuba umntu ayazi iyabulala.

Zofuzo ubalisa trisomy, esibonisa phambi zofuzo ezintathu homologous kwi karyotype (imali indyebo). iziphumo aphambuke enjalo kukwenziwa Edwards Syndrome kunye Ezantsi engqondweni. Monosomy kuthetha ubukho omnye kuphela ye zofuzo ezimbini homologous (ukuncipha mali), phantse ukuphelisa uphuhliso eqhelekileyo mbungu.

Unobangela la Kukwaphula kumanqanaba ahlukeneyo ekhula kweeseli lwegciwane. Oku kwenzeka ngenxa yokulibaziseka anaphase - zofuzo homologous ngexesha hlula iseli move kwi nezibonda, kwaye omnye wabo akwazi ukugcina up. Kukho kwakhona ingqikelelo "non-disjunction", xa zofuzo ayikwazanga kwahlulwa ibe amanqanaba mitosis okanye meiosis. Oku kukhokelela ngokubonakala ukuphazamiseka ngegalelo ubungnqongqo. Isifundo le meko iya kunceda ukusombulula intsinda-badala indlela le, kwaye mhlawumbi uya kwenza kube lula ukubona nempembelelo ezi nkqubo.