Gene kunotouraya

Gene kunotouraya - kuti ndicho chikonzero chiri paumbwe imwe heterogeneous boka kunotoda kurapwa kuratidzirwa chirwere, rinonzi "chirwere magene". Zvinonyatsorehwa kakawanda chiitiko yavo kwevanhu vaviri kusvika mana muzana.

Change (mutation) jini Nokumukira kukura siyana enhaka zvirwere chikonzero. In mushonga ano, akatsanangura vanopfuura zviuru zvitatu pathologies izvi. Vakawanda nekuratidza chirwere chiri fermentopathy. Zvinofungidzirwa kuti Gene kunotouraya zvinogona kukanganisa fetus, nezvifambiso uye STRUCTURAL nemapurotini. Kumwe kuchinja kunotanga zvinogona rakatangwa muna siyana nguva dzose ontogenesis (pakukura). Kwavo kwese kwemakore akawanda intrauterine (kusvika 25% enhaka pathologies) uye dopubertatnogo (pamberi pakuyaruka) nguva (anenge 45%). Gene kunotouraya rwakavapo kuyaruka (kuyaruka) uye yokupara nguva (anenge 25%). Vashoma vasingakoshi chitsama (anenge 10%) maronda dzakaonekwa anopfuura makore makumi maviri.

Genetic zvirwere dzinoiswa maererano nhaka mhando (autosomal recessive, autosomal kuzivikanwa nevamwe), zvichienderana nhengo kana kuti gadziriro, zvakawanda pathological muitiro (kwemakemikari anobudiswa, neuromuscular, ocular, etc.), zvichienderana yezvakaita metabolic urema (chokuita kukanganisika carbohydrate, chicherwa nezvimwe lipid muviri.). For rakazvimirira boka rinosanganisira zvirwere yomuka pamusoro yaitwa fetus uye rwaamai kusapindirana pamusoro maantigen vari mumapoka ropa.

Kukonzerwa germline kunotouraya, nhaka chirwere maererano nemitemo Mendel. Zvichida chidzoke okukura itsva kana nhaka kubva kare kushandura. Muzviitiko zvakadaro, pathological hurongwa anoparadzirwa mumasero zvose muviri.

Gene kunotouraya zvingaitika mune rimwe masero panguva dzakasiyana zvokukura nokupwanywa zygote. Muzviitiko zvakadaro, muviri anova waMosesi kuti chivako. Nemamwe mashoko, mune dzimwe masero kushanda muupenyu allele (chimiro majini), uye vamwe - mutant. Kutonga kunotouraya akaratidza phenotypically (zvekuchipatara zviratidzo) muna dzazvinogara masero uye chinokurwadzai kukura chirwere. Panguva iyo pane mukana wokuti chirwere zvishoma zvikuru zvakakwana, sezvo kusiyana zvizere mutants.

Nyanzvi patsanura kuchinja dzichipfekeka uye STRUCTURAL.

Structural Gene kunotouraya rakamuka-kamuka kuchinja - the yokutsiva chimwe purine nechimwe (makemikari remubatanidzwa rokudzora nomukaka, purine) kune mumwe, kana chimwe pyrimidine chawo (Organic yeimwe - pyrimidine nomukaka) nomumwe pyrimidine vakaisvoipa; makavigwa munhu codon (majini remitemo chikwata) Kuchinja mumwe chete umo kuzvitsinhanisa zvakaitika. Panewo kwakadaro chinhu se "transversion". Muchiitiko ichi pane Kutsiviwa kwemari purine kana pyrimidine zvigadziko vakutarisire. Izvi Kuchinja sezvo codon umo nyaya kutsiviwa. Uyezve, pane frameshift mutation. Saka pane kurasikirwa (deletion) kana kupinza (kupinza) rimwe kana akawanda nucleotide yezvinoita. Maererano kurasikirwa kana kupinza mugove dzingasiyana zvakawanda kana vashoma codons.

Kunotouraya ari majini vari dzichipfekeka Kuchinja vasiri transcribed (yeEncoding) chikamu morekuru reDNA. Izvi chinokurwadzai kukanganisika murau pakati kushanda STRUCTURAL zvinhu. Izvi zvinogona kuguma kuwedzera kana kudzikisa mwero kwetunhu runoenzanirana mapuroteni kuti siyana inegumi.