Iileta ezintathu ze-SNP zikho kuyo yonke indawo kuphononongo lwemfuza yabemi.Kungakhathaliseki ukuba uphando lwezifo zabantu, ukubekwa kwezityalo, ukuvela kwezilwanyana kunye ne-ecology ye-molecular, i-SNPs iyadingeka njengesiseko.Nangona kunjalo, ukuba awunayo ingqiqo enzulu yemfuza yanamhlanje esekelwe kwi-high-throughput sequencing, kwaye ujongene noonobumba abathathu, kubonakala ngathi "oyena mntu wasemzini uqhelekileyo", ngoko awukwazi ukwenza uphando olulandelayo.Ke ngaphambi kokuba siqalise uphando lokulandelela, makhe sijonge ukuba yintoni i-SNP.

I-SNP (i-polymorphism eyodwa ye-nucleotide), sinokubona kwigama layo elipheleleyo lesiNgesi, libhekisela kwinguqu enye ye-nucleotide okanye i-polymorphism.Ikwanalo negama elahlukileyo, elibizwa ngokuba yi-SNV (ukwahluka kwe-nucleotide enye).Kwezinye izifundo zabantu, kuphela abo bane-frequency yabemi ephezulu kune-1% ebizwa ngokuba yi-SNP, kodwa ngokuthetha ngokubanzi, ezi zimbini zinokuxutywa.Ngoko sinokuthi i-SNP, i-nucleotide polymorphism enye, ibhekisela ekuguqulweni apho enye i-nucleotide kwi-genome ithathelwe indawo yenye i-nucleotide.Ngokomzekelo, kumzobo ongezantsi, i-AT base pair ithathelwe indawo kunye ne-GC base pair, eyindawo ye-SNP.

Umfanekiso

Nangona kunjalo, nokuba "i-polymorphism eyodwa ye-nucleotide" okanye "i-nucleotide variation enye", ithetha ngokuthe ngqo, ngoko ke idatha ye-SNP idinga i-genome resequencing njengesiseko, oko kukuthi, idatha yokulandelelana ilandelwa emva kokuba i-genome yomntu ilandelelana.Xa kuthelekiswa ne-genome, isayithi eyahlukileyo kwi-genome ifunyenwe njengendawo ye-SNP.

Ngokumalunga ne-SNPs kwimifuno,Ikhithi yePCR ethe ngqoingasetyenziselwa ukufumanisa ngokukhawuleza.

Ngokubhekiselele kwiindidi zokuguqula, i-SNP ibandakanya utshintsho kunye nokuguqulwa.Utshintsho lubhekisela ekutshintshweni kwee-purines kunye ne-purines okanye i-pyrimidines kunye ne-pyrimidines.Ukuguqulwa kubhekisela ekutshintsheni okufanayo phakathi kwe-purines kunye ne-pyrimidines.Ukuphindaphinda kokwenzeka kuya kwahluka, kwaye amathuba okutshintsha aya kuba phezulu kunoko woguqulo.

Ngokubhekiselele apho kwenzeka khona i-SNP, ii-SNP ezahlukeneyo ziya kuba nemiphumo eyahlukileyo kwi-genome.I-SNP eyenzeka kwingingqi ye-intergenic, oko kukuthi, ummandla ophakathi kwejene kwi-genome, ayinakuchaphazela umsebenzi we-genome, kwaye ukuguqulwa kwe-intron okanye ummandla ophakamileyo womgqugquzeli we-gene unokuba nefuthe elithile kwi-gene;Ukuguqulwa okwenzeka kwimimandla ye-exon yezakhi zofuzo, kuxhomekeke ekubeni zenza utshintsho kwi-encoded amino acids, zineempembelelo ezahlukeneyo kwimisebenzi yemfuza.(Ngokuqinisekileyo, nokuba ii-SNP ezimbini zibangela ukungafani kwi-amino acids, zineempembelelo ezahlukeneyo kwisakhiwo seprotheni, kwaye ekugqibeleni imiphumo kwi-phenotype yezinto eziphilayo inokuthi ihluke kakhulu).

Nangona kunjalo, inani le-SNP eyenzeka kwiindawo zofuzo ngokuqhelekileyo lincinci kakhulu kuneendawo ezingezizo, kuba i-SNP echaphazela umsebenzi we-gene idla ngokuba nefuthe elibi ekusindeni komntu ngamnye, okubangelwa ukuba umntu ophethe le SNP kwiqela Phakathi kwabo yapheliswa.

Kakade ke, kwizinto eziphilayo zediploid, iichromosome zikhona ngambini, kodwa akunakwenzeka ukuba iperi yeechromosomes zifane ncam kwisiseko ngasinye.Ke ngoko, ezinye ii-SNP ziyakuvela kwakhona njenge-heterozygous, oko kukuthi, kukho iziseko ezibini kwesi sikhundla kwichromosome.Kwiqela, i-SNP genotypes yabantu abahlukeneyo zidityaniswe ndawonye, ​​​​eba sisiseko sohlalutyo oluninzi olulandelayo.Ngokudibanisa neempawu, kunokugwetywa ukuba i-SNP njenge-molecular marker idibene neempawu, i-QTL (i-quantitative trait locus) ye-trait inokugwetywa, kunye ne-GWAS (i-genome-wide association study) okanye ukwakhiwa kwemephu yofuzo kunokwenziwa;I-SNP ingasetyenziswa njengophawu lwemolekyuli Gweba ubudlelwane bendaleko phakathi kwabantu;unokujonga ii-SNP ezisebenzayo kwaye ufunde ukuguqulwa kwezifo ezinxulumene nesifo;ungasebenzisa i-SNP allele utshintsho lwe-frequency okanye i-heterozygous rates kunye nezinye izikhombisi zokumisela imimandla ekhethiweyo kwi-genome ... njl. njl., idityaniswe nekhoyo Ngoku Ngokuphuhliswa kokulandelelana kwe-high-throughput, amakhulu amawaka okanye ngaphezulu kweendawo ze-SNP zingafumaneka kwisethi yedatha yokulandelelana.Kunokuthiwa ukuba i-SNP ngoku ibe sisiseko sophando lofuzo lwabantu.

Ngokuqinisekileyo, utshintsho kwiziseko kwi-genome alusoloko lutshintsha isiseko esinye kunye nesinye (nangona le yeyona nto ixhaphakileyo).Kwakhona kunokwenzeka ukuba enye okanye iziseko ezimbalwa zilahlekile, okanye iziseko ezimbini.Ezinye iziseko ezininzi zafakwa embindini.Olu luhlu luncinci lokufakela kunye nokucima lubizwa ngokuba yi-InDel (ukufakwa kunye nokucima), okubhekiselele ngokukodwa ekufakweni nasekucimeni amaqhekeza amafutshane (enye okanye iziseko ezininzi).I-InDel eyenzeka kwindawo yemfuza inokuba nefuthe kumsebenzi wofuzo, ngoko ngamanye amaxesha i-InDel inokudlala indima ebalulekileyo kuphando.Kodwa ngokubanzi, imeko ye-SNP njengelitye lembombo le-genetics yabemi ayikagungqi.