Mol Genetics ea Mol. 2015 Aug;290(4):1191-221. doi: 10.1007/s00438-015-1015-9.
Albuquerque D1, Stice E, Rodríguez-López R, Manco L, Nóbrega C.
inahaneloang
Hoa tsebahala hore botenya ke mokhoa o rarahaneng oa mefuta-futa le e sa tloaelehang ka karolo ea bohlokoa ea liphatsa tsa lefutso. Morao tjena, liphuputso tse kholo tsa lipatlisiso tsa botenya li hlahile mabapi le mekhoa ea limolek'hule e tlatsetsang boemo bo bobebe. Tlhahlobo ena e fana ka liphuputso tse 'maloa le lintlha tse amanang le liphatsa tsa lefutso le lintlha tse ling tsa bohlokoa molemong oa ts'oaetso ea ho ntlafatsa botenya. E thehiloeng liphatsong tsa lefutso tsa liphatsa tsa lefutso lihlopha tse tharo tse kholo tsa botenya li nkoa e le: monogenic, syndromic, le botenya bo tloaelehileng. Bakeng sa mefuta e mengata ea botenya haholo, liphatsa tsa lefutso tse etsang hore phantotype e khethoe ka ho hlaka, empa ka lebaka la botenya bo tloaelehileng, loci ea mohaho o thehiloeng ho phenotype e ntse e khetholloa. Ho bolelloa hore, tlhahlobisong ena re tsepamisa maikutlo haholo ka foromo ena ea botenya, re hlahloba lintlha tse fumanoang ho fihlela joale ke liphuputso tsa mokhatlo oa liphatsa tsa lefutso tse amanang le bothata ba ts'oaetso ea ho ntlafatsa botenya. Ho feta moo, re boetse re na le lintlha tse ngata mabapi le li-loci tse amanang le botenya tse fumanoang bana le merabe e fapaneng, ho leka ho totobatsa ho rarahana ha liphatsa tsa lefutso tse thehiloeng ho tloaelehileng ea phenotype e tloaelehileng. Habohlokoa, re boetse re tsepamisitse maikutlo mehopolong ea ho iphetola ha lintho tse entsoeng ho leka ho hlalosa kamoo tlhaho ea tlhaho e ratang ho ata ha liphatsa tsa lefutso tse eketsang kotsing ea phantotype e feteletseng le hore na boemo bona ba ho nona bo feteletseng bo fetohile joang. Lintlha tse ling ke tsa bohlokoa boemong ba botenya, 'me ka hona, re boetse re buisana ka mekhoa ea epigenetic e kenyelletsoang le ho ntlafatsa botenya. Ho koahela lihlooho tsena kaofela re lebeletse ho fana ka pono e feletseng le ea morao-rao ka mekhoa e ka sehloohong e kenyelletsang tsoelo-pele le tšimoloho ea botenya. Ke feela ka kutloisiso e feletseng ea lits'ebetso le mekhoa e tlatsetsang ho boima haholo, ho tla khoneha ho fana le ho lumella ntlafatso ea mekhoa e mecha ea phekolo ea boemo bona.
PMID: 25749980
DOI: 10.1007/s00438-015-1015-9
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