Liphetoho liphatseng tsa lefutso phatsa ea lefutso

Gene liphetoho liphatseng tsa lefutso - hore ke lebaka la e sebopeho sa sehlopha heterogeneous ea liponahatso tsa tleleniki ea lefu, e leng o bitsoa "liphatsa tsa lefutso lefu". The maqhubu a akaretsang ea ketsahalo e sa bona ka baahi ba batho ka liphesente tse peli ho isa ho tse 'nè.

Phetoho (phetoho liphatseng tsa lefutso) phatsa ea lefutso e susumelletsang motho ho hōla ha mefuta e mengata ea lefa mafu lebaka. Ka moriana ea kajeno, o ile a hlalosa ho feta likete tse tharo ba pathologies tsena. Ponahatso o tloaelehileng haholo oa lefu lena le ke fermentopathy. Ho lumeloa hore liphetoho tse bang teng phatsa ea lefutso e ka ama fetal, lipalangoang le liprotheine mehaho. liphetoho Pathological ka ho sebediswa ho nako e fapaneng ya ontogenesis (ntshetsopeleng). tloaelehileng tsa bona bakeng sa ho fetisisa tsa intrauterine sa (ho fihlela ho 25% ya pathologies lefa) le dopubertatnogo (pele kena bonneng kapa bosaling) nako (ka bang 45%). Gene liphetoho liphatseng tsa lefutso etsahala lilemong tsa bocha (kena bonneng kapa bosaling) le nako ya mike mike (ka 25%). E batlang e seng oa bohlokoa chelete (ka 10%) diso lemoha ho theosa le lilemo tse mashome a mabeli.

mafu a liphatsa tsa lefutso li classified ho latela mofuta lefa la (autosomal recessive, autosomal ka sehloohong le ba bang), ho itšetlehile ka le lekala kapa tsamaiso, akarelletsa lintho tse ngata mosebetsing oa ho pathological (endocrine, neuromuscular, ocular, joalo-joalo), ho itšetlehile ka mofuta wa sekoli metaboliki (amanang le ho hloka taolo ya k'habohaedreite, matsoai 'me tse ling tse lipid metabolism.). Bakeng sa sehlopha se ikemetseng se akarelletsa mafu a hlahang ka semelo sa fetal le 'mè lumellane ho ba antigens ka lihlopha tsa mali.

Bakoa ke liphetoho liphatseng tsa lefutso germline, futsitse lefu ho latela melao ea Mendel. Mohlomong u ka ho hlaha ha ntshetsopeleng e ncha kapa seo re se futsitseng ho tloha melokong e fetileng fetola. Maemong a joalo, mehaho e pathological li ajoa lisele tsohle 'mele.

Gene liphetoho liphatseng tsa lefutso le ka etsahala e mong oa lisele tsa ka mekhahlelo e fapaneng ya sithabetsa le zygote. Maemong a joalo, 'mele o e ba litšoantšo bakeng sa sebopeho sa. Ka mantsoe a mang, ho ba bang ba lisele tsa sebetsa allele tloaelehile (mofuta o itseng oa liphatsa tsa lefutso ho), le ho ba bang - sehole. Busa liphetoho liphatseng tsa lefutso o ile a bontša phenotypically (litleleniki tsa matšoao) ka lisele tse fapaneng le qholotsa ntshetsopele ya lefu lena. Ka nako e tšoanang na le monyetla lekaneng ea lefu tlase haholo, ho fapana mutants ka botlalo.

Litsebi go arologana liphetoho ka tshebetso le mehaho.

liphetoho liphatseng tsa lefutso mehaho phatsa ea lefutso arologanyediwa ka paka ya ka ho fetoha - the Phetolo ya mong botlaaseng purine (manyolo komponeng ea derivatives tlhaho, purine) ho e 'ngoe, kapa e' ngoe botlaaseng pyrimidine (metsoako manyolo - pyrimidine derivatives) ke botlaaseng mong pyrimidine; moo e codon (liphatsa tsa lefutso khoutu unit trust) fetola le 'ngoe feela eo ka eona ho tloswa e hlahile. Ho boetse ho na le ntho e kang "transversion". Tabeng ena ho na le Phetolo ya purine kapa pyrimidine makalana sekgoeng. Ena e fetola e le codon oo nyeoe e 'ngoe Phetolo. Ho feta moo, ho na le phetoho liphatseng tsa lefutso frameshift. Ka tsela eo ho na le ke ho lahleheloa ke (hlakolwa) kapa kenyeletswa (kenyeletswa) ya 'ngoe kapa lipara maloa nucleotide. Ho latela tahlehelo kapa kenyeletswa karolo e ka fapana codons ho feta kapa ka tlaase.

Liphetoho liphatseng tsa lefutso ka liphatsa tsa lefutso e na le tshebetso phetoho ka bao e seng ba transcribed (khouto) karolo ea DNA molek'hule. Sena se qholotsa le bokuli bo itseng ba molao oa tsamaiso ea ea ka tšebetso ea likarolo tsa mehaho. Sena se ka 'na fella ka keketseho e kapa fokotseha ka lebelo la tswakana tsa protheine e lekanang ho likhato sa tšoaneng.