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Izinhlamvu ezintathu ze-SNP zitholakala yonke indawo ocwaningweni lwezakhi zofuzo zabantu.Kungakhathalekile ukuthi kwenziwa ucwaningo ngezifo zabantu, ukubekwa kwesimo sezitshalo, ukuvela kwezilwane kanye nemvelo yamangqamuzana, ama-SNP ayadingeka njengesisekelo.Kodwa-ke, uma ungenakho ukuqonda okujulile kwezakhi zofuzo zesimanje ezisekelwe ekulandeleni okuphezulu, futhi ubhekene nalezi zinhlamvu ezintathu, kubonakala sengathi "umuntu ongaziwa kakhulu", ngakho awukwazi ukwenza ucwaningo olulandelayo.Ngakho-ke ngaphambi kokuba siqale ucwaningo lokulandelela, ake sibheke ukuthi iyini i-SNP.

I-SNP (i-nucleotide polymorphism eyodwa), singabona egameni layo eliphelele lesiNgisi, libhekisela ekuhlukeni kwe-nucleotide eyodwa noma i-polymorphism.Futhi inegama elihlukile, elibizwa nge-SNV (i-nucleotide variation eyodwa).Kwezinye izifundo zabantu, yilabo kuphela abanemvamisa yabantu abangaphezu kuka-1% ababizwa ngokuthi ama-SNP, kodwa uma sikhuluma kabanzi, lezi ezimbili zingaxutshwa.Ngakho singasho ukuthi i-SNP, i-nucleotide polymorphism eyodwa, ibhekisela ekuguquguqukeni lapho i-nucleotide eyodwa ku-genome ithathelwa indawo enye i-nucleotide.Isibonelo, esithombeni esingezansi, i-AT base pair ithathelwa indawo i-GC base pair, okuyisayithi le-SNP.

Isithombe

I-Genetics1

Kodwa-ke, kungakhathaliseki ukuthi "i-nucleotide polymorphism eyodwa" noma "i-nucleotide variation eyodwa", ikhuluma ngokuqhathaniswa, ngakho-ke idatha ye-SNP idinga ukuphindaphinda kwe-genome njengesisekelo, okungukuthi, idatha yokulandelana ilandelana ngemva kokulandelana kwe-genome yomuntu.Uma kuqhathaniswa ne-genome, isayithi elihlukile ku-genome litholwa njengesayithi le-SNP.

Mayelana nama-SNP ngemifino,Ikhithi ye-Plant Direct PCRingasetshenziselwa ukutholwa ngokushesha.

Ngokuphathelene nezinhlobo zokuguqulwa, i-SNP ihlanganisa ukuguqulwa nokuguqulwa.Inguquko isho ukushintshwa kwama-purines ngama-purines noma ama-pyrimidine ngama-pyrimidines.Ukuguqulwa kubhekisela ekushintsheni okufanayo phakathi kwama-purines nama-pyrimidines.Imvamisa yokwenzeka izohluka, futhi amathuba oshintsho azoba phezulu kunalawo okuguqulwa.

Mayelana nokuthi i-SNP ivela kuphi, ama-SNP ahlukene azoba nemiphumela ehlukile ku-genome.Ama-SNP ayenzeka esifundeni se-intergenic, okungukuthi, isifunda esiphakathi kwezakhi zofuzo ku-genome, angase angathinti umsebenzi we-genome, futhi ukuguqulwa kwe-intron noma isifunda somgqugquzeli okhuphukayo wofuzo kungase kube nomthelela othile kufuzo;Izinguquko ezenzeka ezifundeni ze-exon zezakhi zofuzo, kuye ngokuthi zibangela izinguquko kuma-amino acid afakwe ikhodi, zinemiphumela ehlukile emisebenzini yofuzo.(Yiqiniso, noma ngabe ama-SNP amabili adala umehluko kuma-amino acid, anemiphumela ehlukile ekwakhiweni kwamaprotheni, futhi ekugcineni imiphumela ku-phenotype yezinto eziphilayo ingase ihluke kakhulu).

Kodwa-ke, inani lama-SNP avela ezindaweni zofuzo ngokuvamile lincane kakhulu kunelezindawo ezingezona izakhi zofuzo, ngoba i-SNP ethinta umsebenzi wofuzo ngokuvamile inomthelela omubi ekusindeni komuntu ngamunye, okuholela ekutheni umuntu ophethe le SNP eqenjini Phakathi kwabo aqedwe.

Yiqiniso, ezintweni eziphilayo ze-diploid, ama-chromosome akhona ngamabili, kodwa akunakwenzeka ukuthi ipheya lama-chromosome lifane ncamashi nesisekelo ngasinye.Ngakho-ke, amanye ama-SNP azovela njenge-heterozygous, okungukuthi, kunezisekelo ezimbili kule ndawo ku-chromosome.Eqenjini, i-SNP genotypes yabantu abahlukene ihlanganiswa ndawonye, ​​okuba yisisekelo sokuhlaziya okuningi okulandelayo.Ngokuhambisana nezici, kungahlulelwa ukuthi i-SNP njengomaka wamangqamuzana ixhunywe nezici, i-QTL (i-quantitative trait locus) yesici ingahlulelwa, futhi i-GWAS (ucwaningo lwe-genome-wide association) noma ukwakhiwa kwemephu yofuzo kungenziwa;I-SNP ingasetshenziswa njengomaka wamangqamuzana Yahlulela ubudlelwano bokuziphendukela kwemvelo phakathi kwabantu;ungahlola ama-SNP asebenzayo futhi ufunde izinguquko ezihlobene nesifo;ungasebenzisa izinguquko zemvamisa ye-allele ye-SNP noma amazinga e-heterozygous nezinye izinkomba ukuze unqume izifunda ezikhethiwe ku-genome... njll., kuhlanganiswe nesimanje Ngokuthuthukiswa kokulandelana komphumela ophezulu, amakhulu ezinkulungwane noma ngaphezulu amasayithi e-SNP angatholakala kusethi yedatha yokulandelanisa.Kungashiwo ukuthi i-SNP manje isiphenduke insika yocwaningo lofuzo lwabantu.

Yiqiniso, izinguquko ezisekelweni ku-genome azihlali zishintsha isisekelo esisodwa nesinye (nakuba lesi kuyisona esivame kakhulu).Kungenzeka futhi ukuthi isisekelo esisodwa noma ezimbalwa azikho, noma izisekelo ezimbili.Ezinye izisekelo eziningana zafakwa phakathi nendawo.Lolu hlu oluncane lokufakwayo nokususwa lubizwa ngokuhlanganyela ngokuthi i-InDel (ukufaka nokususwa), okubhekisela ngokuqondile ekufakweni nasekususweni kwezingcezu ezimfushane (isisekelo esisodwa noma ezimbalwa).I-InDel eyenzeka endaweni yofuzo ingase ibe nomthelela emsebenzini wofuzo, ngakho-ke ngezinye izikhathi i-InDel ingase idlale indima ebalulekile ocwaningweni.Kodwa sekukonke, isimo se-SNP njengesisekelo sofuzo lwabantu asinyakazi.


Isikhathi sokuthumela: Aug-27-2021