Zofuzo

Zofuzo - okungukuthi isizathu okuyinto kumiswa iqembu heterogeneous ukubonakaliswa basemtholampilo sifo, ubizwa ngokuthi "isifo esidluliselwa ngofuzo". Imvamisa jikelele nesenzakalo yabo esikhathini labantu by emibili kuya kwemine amaphesenti.

Guqula (kuguquka) isakhi esithile sisebenza ingqondo ekuthuthukiseni izinhlobo eziningi zenani elikhulu eziyifa izifo isici. Ngo inqubo yokwelapha yesimanje, echazwe ezingaphezu kwezintathu izinkulungwane yalezi pathologies. Ukubonakaliswa ezivame kakhulu lesi sifo fermentopathy. Kukholakala ukuthi zofuzo kungathinta fetus, ezokuthutha kanye namaprotheni kwesakhiwo. izinguquko sokugembula ezingase zithathwe ezinkathini ezihlukahlukene of ontogenesis (ukuthuthukiswa). ejwayelekile lwabo iningi intrauterine (kufika ku-25% pathologies lezinceku) kanye dopubertatnogo (ngaphambi ukuthomba) isikhathi (cishe 45%). Zofuzo zenzeka entsheni (ukuthomba) nesikhathi engamahlongandlebe (25%). Kuqhathaniswa nenani abangelutho (10%) izilonda Kutholwe phezu engamashumi amabili.

nezifo ngenxa yezakhi zofuzo ihlukaniswa ngokweminyaka ifa uhlobo (autosomal esikhubazayo, autosomal evelele nabanye), kuye ngokuthi isitho noma uhlelo, wahileleka kakhudlwana inqubo sokugembula (endocrine, kwamanyuroni, ocular, njll), kuye ngokuthi isimo yokuphambana umzimba (elihlobene ne ukuphazamiseka carbohydrate, amaminerali nezinye umzimba lipid.). Ukuze iqembu ezimele kuhlanganisa izifo ezivukayo ku isizinda ukungavumelani fetus komama antigen kumaqembu igazi.

Senziwa ukuguquka kwezakhi zofuzo germline, ngofuzo isifo ngokuhambisana nemithetho Mendel. Mhlawumbe ukuvela intuthuko entsha noma ngofuzo nezizukulwane ezidlule ukushintsha. Ezimweni ezinjalo, izakhiwo sokugembula basakazwa kuwo wonke amangqamuzana omzimba.

Zofuzo kungenzeka kwesinye sezitokisi emazingeni ahlukahlukeneko wendlela nokuqeda zygote. Ezimweni ezinjalo, umzimba iba KaMose ukuze isakhiwo. Ngamanye amazwi, kwezinye amaseli isebenze allele evamile (uhlobo isakhi sofuzo), futhi abanye - asabekayo. Okubusa ukuguquka kwezakhi zofuzo wabonakaliswa phenotypically (izimpawu zokwelapha) kumaseli abafanele futhi wenza ukuthuthukiswa lesi sifo. Ngesikhathi esifanayo kukhona amathuba anele yesifo kancane ezinzima, njengoba kuqhathaniswa izidalwa ezisesimweni sokuguquka egcwele.

Ochwepheshe uhlukanise izinguquko ukusebenza futhi kwesakhiwo.

Bezakhiwe zofuzo selihlukene laba ukuhwebelana - esikhundleni esisodwa base purine (kwakwakhe eziphilayo nemikhiqizo yemvelo, purine) kwenye, noma omunye base pyrimidine (organic compounds - nemikhiqizo pyrimidine) ngomunye base pyrimidine; lapho a codon (zofuzo ikhodi iyunithi) eshintsha eyodwa kuphela lapho esikhundleni iphutha. Kukhona into efana "transversion". Kulokhu kukhona ukumiselelwa purine noma pyrimidine elisekela okuphambene nalokho. Lokhu kushintsha njengoba codon kuleso simo esikhundleni. Ngaphezu kwalokho, kukhona kuguquka frameshift. Ngakho kukhona ukulahleka (ukususa) noma Ukufakwa (Ukufakwa) elilodwa noma amabhangqa amaningana nucleotide. Ngokuhambisana ukulahleka noma ingxenye Ukufakwa ingahluka codons ngaphezulu noma ngaphansi.

Ukuguqula izakhi zofuzo ezakhini zofuzo kukhona ushintsho obusebenzayo ku (lokufaka ikhodi) okuyingxenye-non-eloba we molecule ye-DNA. Lokhu kuphakamisa ukuphazamiseka ukulawulwa ukusebenza timphawu tesakhiwo. Lokhu kungaholela ukwanda noma ukwehla izinga zamagama amaprotheni okuhambisanayo ntshashintshe.