Masinthidwe jini

Gene masinthidwe - kuti ndi chifukwa ndilo mapangidwe gulu sakanikira maonekedwe matenda a matenda wotchedwa "majini matenda". Pafupipafupi wonse wa asayembekezere mu alionse anthu peresenti awiri kapena anayi.

Change (masinthidwe) jini n'zothandiza chitukuko cha mitundu yambiri ya cholowa matenda china. Mu mankhwala amakono, anafotokoza zoposa zikwi zitatu pathologies izi. Mawonetseredwe ambiri matenda ndi fermentopathy. Amakhulupirira kuti masinthidwe jini zingakhudze yoopsa, mayendedwe ndi mapuloteni structural. kusintha Pathological akhoza akuyendera panyengo zosiyanasiyana za ontogenesis (chitukuko). lililonse awo ambiri intrauterine ndi (mpaka 25% a pathologies kumtundu) ndi dopubertatnogo (pamaso msinkhu) nthawi (45%). Gene masinthidwe zimachitika unyamata (msinkhu) ndi nthawi zaumbanda (pafupifupi 25%). Ndi zonyozeka kuchuluka (10%) zotupa wapezeka pa zaka makumi awiri.

matenda majini ali m'magulu malinga ndi mtundu cholowa (autosomal recessive, autosomal lalikulu ndi ena), malingana ndi chiwalo kapena kachitidwe, zinthu zambiri mu ndondomeko pathological (endocrine, neuromuscular, ocular, etc.), malinga ndi chikhalidwe cha chilema kagayidwe kachakudya (kugwirizana ndi matenda zimam'patsa mchere ndi zina zamadzimadzi kagayidwe.). Gulu palokha zikuphatikizapo matenda akuwuka pa maziko a yoopsa ndi akuchikazi zosagwirizana wa antigens magulu magazi.

Zinayambitsa ndi masinthidwe germline tinalandira matenda malinga ndi malamulo a Mendel. Mwina zikamera chitukuko atsopano kapena tinatengera kwa mibadwo yakale kusintha. Zikatero, nyumba pathological amafalitsidwa maselo thupi.

Gene masinthidwe kumachitika mu imodzi ya maselo pamisinkhu yosiyanasiyana kupsinja zygote. Zikatero, thupi wobwezera zithunzi kwa kukonza. M'mawu ena, ena maselo lizigwira allele yachibadwa (mawonekedwe a mbewu), ndipo ena - ZOOPSA. Ulamuliro masinthidwe akuwonetseredwa phenotypically (matenda zizindikiro) mu maselo ziwalo ndi amakwiya chitukuko cha matenda. Pa nthawi yomweyo pali imabwera okwanira matenda zochepa kwambiri, monga kuyenera osinthika kwambiri.

Akatswiri m'kagulu kusintha zinchito ndi structural.

masinthidwe kandalama jini lophatikizana ndi ubwamunalo linagawanika mu kusintha - m'malo a munthu m'munsi purine (organic pawiri wa zotumphukira zachilengedwe, purine) ndi mzake, kapena m'munsi pyrimidine (mankhwala organic - pyrimidine zotumphukira) ndi m'munsi wina pyrimidine; M'menemo ndi codon (majini malamulo wagawo) amasintha imodzi yokha imene M'MALO zinachitika. Palinso chinthu choterocho ngati "transversion". Pankhaniyi pali m'malo a purine kapena pyrimidine zapansi mosemphanitsa. Kumasintha ngati codon zimene zinachitikira m'malo. Komanso, pali kusintha frameshift. Choncho pali imfa (kufufutidwa) kapena mayikidwe (mayikidwe) chimodzi kapena awiriawiri angapo nyukiliotayidi. Malinga ndi imfa kapena mayikidwe gawo zingasiyane codons zambiri kapena kucheperapo.

Masinthidwe chibadwa ndi zinchito kusintha sanali wolembedwa (kabisidwe) mbali ya DNA. Izi amakwiya matenda lamulo kugwira ntchito zinthu structural. Zingatipangitse kuchuluka kapena kuchepa mu mlingo wa kaphatikizidwe wa puloteni wokwanira osiyana.