Zofuzo

Zofuzo - oko isizathu nto ukuyilwa iqela owahlukeneyo ukwenza izinto kwezonyango sifo, ekuthiwa "yemfuzo". Le Ukuxhaphaka iyonke kwazo kubemi abantu ababini ukuya kwabane ekhulwini.

Tshintsha (guquko) gene nto ukumqumbisa uphuhliso iintlobo ezininzi zamafa izifo factor. Xa amayeza mihla, ochazwe ngaphezulu kwamawaka amathathu ezi ezimbi. Ukubonakalisa uqhelekileyo esi sifo fermentopathy. Kukholelwa ukuba zofuzo zingachaphazela ezingekazalwa, ezothutho kunye neeproteni zezakhiwo. utshintsho yezifo lingaphunyezwa njani ngamaxesha ezahlukeneyo ze ontogenesis (uphuhliso). okufana zabo uninzi intrauterine (ukuya kwi-25% of ezimbi ilifa) kunye dopubertatnogo (phambi ukufikisa) ixesha (malunga nama-45%). Gene ukuziguqula kwenzeka xa elivisayo (ukufikisa) kunye nexesha kwabantwana abasebancinane (25%). Sibe imali engabalulekanga (malunga ne-10%), ukwenzakala ukubonwa ngaphezu kweminyaka engamashumi amabini.

izifo Genetic zihlelwe ngokungqinelana uhlobo ilifa (autosomal sofuzo, autosomal lubalaseleyo kunye nabanye), ngokuxhomekeke organ okanye inkqubo, lizibandakanya nangakumbi kwinkqubo lwezidumbu (yonyango, neuromuscular, ocular, njalo-njalo), ngokuxhomekeke kuhlobo unesiphako pathways (ezinxulumene ne ukuphazamiseka carbohydrate, izimbiwa kunye nezinye yokucolwa lipid.). Kuba iqela elizimeleyo kuquka izifo ngenxa kwisiqalo of ukungavumelani ezingekazalwa yomama antigen abakula maqela egazini.

Kubangelwa ukuguquka germline, ilifa isifo ngokungqinelana nemithetho ka Mendel. Mhlawumbi ukuvela zophuhliso ezitsha okanye ilifa kwizizukulwana ezidluleyo utshintshe. Kwiimeko ezinjalo, izakhiwo zophendlo lwezifo zisasazwe kuzo zonke iiseli zomzimba.

Zofuzo kungenzeka omnye iiseli kumanqanaba ahlukeneyo yokuwela lo elilodwa. Kwiimeko ezinjalo, umzimba iba kaMoses ukuba isakhiwo. Ngamanye amazwi, kwezinye iiseli esebenza allele yesiqhelo (uhlobo lwe zofuzo), kunye nabanye - njengesi. Ukubalasela kwezo kubonakaliswa phenotypically (imiqondiso zonyango) iiseli zawo kuphakamisa uphuhliso sifo. Ngelo xesha kukho amathuba okuba ezaneleyo lwesifo ngaphantsi kakhulu, njengoko ephikisana eziguqulwe ngokupheleleyo.

Iingcali bazihlela utshintsho esebenza kunye kwesakhiwo.

ukuguquka Structural gene nohlulwe shintsha - ukutshintshwa esinye isiseko purine (ulungelelwaniso avela zendalo, purine) ukuya kwenye, okanye elinye isiseko pyrimidine (khompawundi organic - yezabelo pyrimidine) ngomnye isiseko pyrimidine; apho a codon (unit yemfuza ikhowudi) utshintsho enye kuphela apho le endaweni. Kukho kwakhona into "transversion". Kule meko kukho indawo ye purine okanye pyrimidine iziseko ngolunye uhlobo. Oku utshintsho njengoko codon apho meko replacement. Ngaphezu koko, kukho kuguquka frameshift. Ngenxa yoko kukho ilahleko (kucinywe) okanye ukufakelwa (yokufaka) enye okanye izibini nucleotide eziliqela. Ngokuhambelana kunye nelahleko okanye inxalenye yokufaka ungahluka codons ngaphezulu okanye ezimbalwa.

Kwezakhi kwi gene utshintsho ezisebenzayo kwi (encoding) inxenye non-yayishicilelwe yomoya DNA. Oku kuphakamisa a ukuphazamiseka ukulawulwa nokusebenza isakhiwo. Oku kungakhokelela ukwanda okanye ukuhla kwireyithi Yindibanisela kwiproteni ahambelanayo shiyana.