Yintoni ebangela izifo zofuzo

Izifo ze-Genetic ziquka iqela elikhulu lezifo eziphakama ngenxa yenguqu kwisakhiwo semfuza. Masifunde ukuba zeziphi izizathu zokuphuhliswa kwezi zifo.

Izifo zofuzo zomntu zibangelwa ziinguqu ezinjengezakhi zengqungquthela ezenza umsebenzi wazo ngokusebenzisa i-polypeptides, ngamanye amagama - amaprotheni. Nakuphi na ukuguquka kwemfuza kufaka utshintsho kwisakhiwo okanye umlinganiselo weprotheni.

Ezi zifo ziqala ngomphumo oyintloko we-mutant allele. Ukuba umntu uzama ukubonisa ukuguquka komzimba komntu, ngoko-ke i-mutant allele iya kuqala kuqala, iya kuphuma kumkhiqizo oyimveliso oyimveliso, ekhokelela kwiinkqubo zezinto eziphilayo ezincinci, ezenza ukuba utshintsho kwizitho kunye nasezikhunjini, kwaye ke yonke into iyonke.

Ukuqwalaselwa kwezifo ze-gene kwiqondo leey molecular, sinokuhlukanisa ezi zilandelayo:

- ukuveliswa kwemali engaphezulu kwemveliso yemfuza,

- ukuhlanganiswa kweprotheni engavumelekanga,

- ukungabi naluphuhliso,

- kwakunye nokuveliswa kwexabiso elincinci lemveliso ephambili.

Izifo ze-Genetic azipheli kwinqanaba lee-molecular. I-pathogenesis yabo iqhubela phambili ukuphuhliswa kwinqanaba leeseli. Kule nto, ku funeka kuqatshelwe ukuba iphuzu lokusetyenziswa kwesenzo semfuza yesifo ngezifo ezahlukahlukeneyo sinokuba ngamalungu ngokubanzi, kunye nezakhiwo zamaselula, njengeembrane, i-peroxisomes, i-lysosomes, i-mitochondria.

Into ebalulekileyo ye-gene pathologies kukuba ukubonakaliswa kwazo kweklinikhi, kunye nejubane kunye nobuqili bokuphuhliswa kugqitywe kwinqanaba le-genotype yomzimba, iimeko zendalo, ubudala begulane kunye nokunye.

Isici esichaphazelekayo se-gene pathologies yi-heterogeneity. Oku kuphakamisa ukuba ukubonakaliswa kwe-phenotypic yesifo esinjalo kubangelwa ziinguqu zombini ezivela kwisiginci esisodwa kunye neentlobo ezahlukeneyo zesini. Oku kwaqala ukusekwa ngo-1934 ngumphandi owaziwayo kwimihlaba ye-genetics, S. N. Davydenkov.

Ngokuphathelele iifomogenic gene pathologies, ngokwemiqathango kaG. Mendel, ifa. Ngaloo ndlela, iifom ze-monogen ziyakwazi ukwahlula ngohlobo lwelifa, oko kukuthi i-autosomal recessive, i-autosomal ephezulu kunye ne-Y okanye i-X-chromosomes.

Zonke izifo zemizimba zingabalwa ngokwemiqondiso emininzi, kwaye iqela elona maninzi kulo mzekelo liya kuba nezifo zesifo sokuxilonga. Cishe zonke zazo ziyi-autosomal type excessive. Isizathu saloo miqathango yentsholongwane yinto eninzi ngokwaneleyo enye okanye enye i-enzyme ejongene nokuhlanganiswa kwama-amino acids. Oku kubandakanya i-pathologies njenge-phenylketonuria, i-albinism yolusu yamehlo, kunye ne-alkaponuria.

Iqela elikhulu elilandelayo lezifo ze-gene lidibene neengxaki zemethambo. Isifo seGlycogen, galactosemia - le mizekelo ehambelana neli qela.

Ezi zilandelayo zi-pathologies ezihambelana ngqo ne-lipid metabolism, oko kukuthi, isifo se-Gaucher, isifo sika-Niemann-Pick kunye nezinto ezinjalo.

Izifo zofuzo zomntu, ngaphezu kwezo zinto zikhankanywe ngaphambili, zihlulwa

- izifo ezivela kwi- pyrimidine kunye ne-purine metabolism,

- pathologies ezinxulumene neziphazamiso zezicubu ezinxibelelwano,

- izifo zokuzalwa ezijikelezayo zeprotheni,

- izifo ezihambelana ngqo nokungaqhelekanga kwezixhobo ze-erythrocytes,

- i-pathologies yobufa be-metabolism zesitye,

- kwakunye ne-syndromes ezibangele ukuphazamiseka kwiinkqubo zokuxhamla kwinkqubo yokutya.

Ukongeza kuzo zonke ezi ngasentla, sidibanisa ukuba ukusekwa kobuhlobo bendawo esi sifo kusekelwe kwikliniki yokuzalwa kwemveli.