Chii chinokonzera nemagene zvirwere

Genetic zvirwere zvinosanganisira guru boka zvirwere izvo inomuka kubva nokuchinja Gene mamiriro. Ngationei kuti vari zvinokonzera pathologies izvi.

Gene zvirwere evanhu kunyanya kukonzerwa kunotouraya ari STRUCTURAL majini, izvo vanonyatsoita basa ravo kubudikidza kwetunhu polypeptides, mune mamwe mashoko - the mapurotini. Chero Gene mutation rinobatanidza kuchinja marongerwo kana uwandu mapuroteni.

zvirwere zvakadai kutange chikuru zvinokonzerwa mutant allele. Kana munhu akaedza schematically chinoreva Gene kunotouraya munhu, pachava pakutanga kuva mutant allele, iyo inoyerera kupinda dzakachinjwa chikuru chigadzirwa, zvichiguma muchitokisi rinopfuura ngetani nokukanganisika urongwa, zvichiguma zvichitungamirira kuchinja mapazi uye munyama, uye ipapo rose muviri.

Uchifunga majini chirwere panguva samolecular vanochiva dzakasiyana izvi vangazivikanwa:

- kugadzirwa kwazvo mari majini chigadzirwa,

- kubatana kwetunhu vanokara mapuroteni

- kushaya kugadzira,

- uyewo kugadzirwa munhu kwakaderedza chitsama chikuru chigadzirwa.

Genetic chirwere hazvirevi kuguma panguva samolecular chechetere. pathogenesis yavo inoramba kuva panguva cellular chechetere. Panyaya iyi tinofanira kuona kuti pfungwa pokushandisa dzakachinjwa Gene zvirwere zvakasiyana-siyana zvinogona kuva vose zvitunha zvavo, uye vakaparadzana cellular hurongwa hwakadai membranes, peroxisomes, lysosomes, mitochondria.

Chinokosha masero abnormalities ndechokuti kuratidzwa zvavo kurapwa, uyewo mwero nekuomarara pakukura pakuguma pachiyero genotype iri muviri, zvakatipoteredza ezvinhu, zera murwere, uye zvakafanana.

A maitiro chinoratidza majini heterogeneity iri pathologies. Izvi zvinoratidza kuti mashoko phenotypic kuratidza chirwere chingava nokuda kunotouraya siyana zvinoitika mukati rimwe Gene kana mune magene siyana. Izvi yakatanga hwakagadzwa muna 1934 maererano mbiri muongorori mumunda genetics S.N.Davidenkovym.

Kana monogenic siyana nemagene abnormalities, maererano nemitemo Mendel, izvo nhaka. Uyewo, monogenic siyana zvinogona kupatsanurwa mhando nhaka, kureva autosomal recessive, autosomal nesimba, uye pamwe chete Y- kana X-okutodza.

chirwere All majini inogona Classified nemashoko akawanda hunhu, uye kupfuura boka iri iyi achapiwa nhaka metabolic zvirwere. Vanenge vose vanopinda autosomal recessive nenzira. The chinokonzera pathological ezvinhu aya ndiwo kushaya imwe enzayemu riri anokonzera kwetunhu amino acids. Izvi zvinosanganisira zvirwere zvakadai phenylketonuria, ziso-cutaneous albinism uye homogentisuria.

Inotevera weupombwe boka masero zvirwere chokuita metabolic zvirwere. Glycogen chirwere, galactosemia - mienzaniso yomumwe boka iri.

Achiteverwa zvirwere kuti vane ukama lipid muviri zvakananga - kureva Gaucher chirwere, Niemann-Pick chirwere uye zvakafanana.

Genetic zvirwere muvanhu, pavake ataurwa, dzinoiswa

- nhaka zvirwere of pyrimidine uye purine muviri,

- pathologies chokuita connective tishu kwepfungwa,

- nhaka kusagadzikana achiparadzira mapuroteni,

- zvirwere zvakananga kushanda kuti muviri zvinetso zviri erythrocytes,

- enhaka zvokurwara nesimbi rates,

- uye syndromes anokonzera malabsorption pezvakaitwa munyika zvomudumbu ino.

Kuwedzera pamusoro apa isu wedzera kuti pakagadzwa nhaka hunhu hosha pazvikanganiso kurapwa uye mazita nzira.