Inyuguti eshatu SNP zirahari hose mukwiga genetika yabaturage.Hatitawe ku bushakashatsi bwindwara zabantu, imiterere yibihingwa, ubwihindurize bwinyamaswa hamwe n’ibidukikije bya molekuline, SNPs irakenewe nkibanze.Ariko, niba udafite ubushishozi bwimbitse kubijyanye na genetiki igezweho ishingiye kumurongo ukurikiranye cyane, kandi ukareba aya mabaruwa atatu, birasa nk "umuntu utazi cyane", ntushobora gukora ubushakashatsi bwakurikiyeho.Mbere rero yo gutangira ubushakashatsi bukurikirana, reka turebe SNP icyo aricyo.

SNP (nucleotide polymorphism imwe), dushobora kubona mwizina ryayo ryuzuye ryicyongereza, ryerekeza kuri nucleotide imwe itandukanye cyangwa polymorphism.Ifite kandi izina ryihariye, ryitwa SNV (nucleotide imwe itandukanye).Mu bushakashatsi bumwe na bumwe bwabantu, gusa abafite inshuro zirenga 1% bitwa SNPs, ariko muri rusange, byombi birashobora kuvangwa.Turashobora kuvuga rero ko SNP, nucleotide polymorphism imwe, yerekeza kuri mutation aho nucleotide imwe muri genome isimbuzwa indi nucleotide.Kurugero, mumashusho hepfo, AT base base yasimbujwe na GC base base, ni urubuga SNP.

Ishusho

Nubwo, yaba "nucleotide polymorphism imwe" cyangwa "nucleotide imwe itandukanye", birasa nkaho bivuze, bityo SNP ikenera genome ihuye nkibanze, ni ukuvuga ko amakuru akurikirana akurikiranwa nyuma ya genome yumuntu.Ugereranije na genome, urubuga rutandukanye na genome rugaragara nkurubuga rwa SNP.

Kubijyanye na SNPs ku mboga,Igikoresho cya PCR kitaziguyeirashobora gukoreshwa mugushakisha vuba.

Kubireba ubwoko bwa mutation, SNP ikubiyemo inzibacyuho no guhinduka.Inzibacyuho bivuga gusimbuza purine na purine cyangwa pyrimidine na pyrimidine.Guhinduranya bisobanura gusimburana hagati ya purine na pyrimidine.Inshuro zibaho zizaba zitandukanye, kandi amahirwe yinzibacyuho azaba arenze ayo guhinduka.

Ukurikije aho SNP ibera, SNPs zitandukanye zizagira ingaruka zitandukanye kuri genome.SNPs ibera mukarere ka intergenjique, ni ukuvuga akarere kari hagati ya gen kuri genome, ntigishobora kugira ingaruka kumikorere ya genome, kandi ihinduka ryimiterere muri intron cyangwa mukarere ka porotokoro ya gene irashobora kugira ingaruka runaka kuri gen;Imihindagurikire ibera mu turere twa exon ya gen, bitewe n’uko itera impinduka muri acide ya amine acide, igira ingaruka zitandukanye kumikorere ya gene.(Birumvikana, nubwo SNPs ebyiri zitera itandukaniro muri acide ya amino, zigira ingaruka zitandukanye kumiterere ya poroteyine, kandi amaherezo ingaruka kuri biologiya yibinyabuzima zishobora kuba zitandukanye).

Nyamara, umubare wa SNPs ubera ahantu gene usanga ari muke cyane ugereranije n’ahantu hatari gene, kubera ko SNP igira ingaruka ku mikorere ya gene ubusanzwe igira ingaruka mbi ku mibereho y’umuntu ku giti cye, bigatuma umuntu utwara iyi SNP mu itsinda Muri bo yavanyweho.

Birumvikana ko kubinyabuzima diploid, chromosomes ibaho kubiri, ariko ntibishoboka ko chromosomes iba imwe kuri buri shingiro.Kubwibyo, SNPs zimwe na zimwe zizagaragara na heterozygous, ni ukuvuga ko hari ibishingwe bibiri kuriyi myanya kuri chromosome.Mu itsinda, genotypes ya SNP yabantu batandukanye ikusanyirijwe hamwe, iba ishingiro ryisesengura ryakurikiyeho.Ufatanije n’imiterere, hashobora gusuzumwa niba SNP nkikimenyetso cya molekuline ifitanye isano nimico, QTL (quantit trait locus locus) yimico irashobora gucirwa urubanza, kandi GWAS (ubushakashatsi bwakozwe na genome-rugari) cyangwa kubaka ikarita ya geneti irashobora gukorwa;SNP irashobora gukoreshwa nkibimenyetso bya molekuline Umucamanza isano y'ubwihindurize hagati yabantu;urashobora kwerekana SNPs ikora kandi ukiga ihinduka ryimiterere ihindagurika ryindwara;urashobora gukoresha SNP allele inshuro nyinshi cyangwa ibipimo bya heterozygous nibindi bipimo kugirango umenye uturere twatoranijwe kuri genome ... nibindi, uhujwe nubu hamwe niterambere ryikurikiranwa ryinshi, ibihumbi magana cyangwa byinshi SNP irashobora kuboneka uhereye kumurongo wamakuru akurikirana.Birashobora kuvugwa ko SNP ubu yabaye ishingiro ryubushakashatsi bwabaturage.

Birumvikana ko impinduka zifatizo muri genome ntabwo buri gihe zisimbuza urufatiro nundi (nubwo arirwo rusanzwe).Birashoboka kandi ko ibishingwe kimwe cyangwa bike byabuze, cyangwa bibiri shingiro.Ibindi shingiro byinshi byinjijwe hagati.Uru rutonde ruto rwo kwinjiza no gusiba rwiswe InDel (kwinjiza no gusiba), bivuga cyane cyane kwinjiza no gusiba ibice bigufi (ishingiro rimwe cyangwa byinshi).InDel ibera ahantu gene ishobora no kugira ingaruka kumikorere ya gene, kuburyo rimwe na rimwe InDel ishobora no kugira uruhare runini mubushakashatsi.Ariko muri rusange, imiterere ya SNP nkibuye fatizo rya genetique yabaturage iracyahungabana.