Mol Genet Genomics. 2015 Aug;290(4):1191-221. doi: 10.1007/s00438-015-1015-9.
Albuquerque D1, Isitya E, URodríguez-López R, UManco L, Nobrega C.
Abstract
Kuyaziwa ukuba ukutyeba yimeko entsonkothileyo kunye ne-heterogeneous enecandelo elibalulekileyo lemfuza. Kutshanje, kuye kwavela inkqubela phambili enkulu kuphando lokutyeba malunga neendlela zemolekyuli ezinegalelo kwimeko yokutyeba. Olu phononongo luchaza izifundo ezininzi kunye nedatha malunga nemfuza kunye nezinye izinto ezibalulekileyo kumngcipheko wokuba sengozini yokuphuhlisa ukutyeba. Ngokusekwe kwi-etiology yemfuza iindidi ezintathu eziphambili zokutyeba zijongwa: i-monogenic, i-syndromic, kunye nokutyeba okuqhelekileyo. Kwiintlobo ze-monogenic zokukhuluphala, i-gene ebangela i-phenotype ichongiwe ngokucacileyo, ngelixa ukutyeba okuqhelekileyo ulwakhiwo lwe-loci oluphantsi kwe-phenotype lusabonakaliswa. Ngenxa yokuba, kolu hlaziyo sijolise ikakhulu kolu hlobo lokutyeba kakhulu, ukuphonononga i-loci efunyenwe ukuza kuthi ga ngoku ngezifundo zombutho obanzi we-genome ezinxulumene nokuba sengozini yokuba sengozini yokuphuhlisa ukutyeba. Ngapha koko, sikwanika iinkcukacha nge-loci enxulumene nokutyeba echongiweyo ebantwaneni nakumaqela ahlukeneyo ezizwe, sizama ukuqaqambisa ukuntsokotha kofuzo oluphantsi kwe-phenotype eqhelekileyo. Okubalulekileyo, sikwagxininise kwiingqikelelo zendaleko ezicetywayo ukuzama ukucacisa indlela ukhetho lwendalo oluthanda ngayo ukusasazeka kofuzo olwandisa umngcipheko we-phenotype etyebileyo kunye nokuba le nto iphambili yokutyeba yavela njani. Ezinye izinto zibalulekile kwimeko yokutyeba, kwaye ke, siphinda sixoxe ngeendlela ze-epigenetic ezibandakanyekayo ekucingeni nasekuphuhliseni ukukhuluphala. Ukugubungela zonke ezi zihloko silindele ukubonelela ngembono epheleleyo kunye neyomva nje malunga neendlela ezisisiseko ezibandakanyekayo ekuphuhliseni kunye nemvelaphi yokukhuluphala. Kuphela ngokuqonda ngokupheleleyo izinto kunye neendlela ezibangela ukukhuluphala, kuya kwenzeka ukubonelela kunye nokuvumela ukuphuhliswa kweendlela ezintsha zonyango kule meko.
PMID: 25749980
DOI: 10.1007/s00438-015-1015-9
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