Nyuma y’uko intiti y’umunyamerika Eric S. Lander yasabye ku mugaragaro nucleotide polymorphism imwe (SNP) nk’ikimenyetso cya gatatu cy’ibimenyetso bya molekuline mu 1996, SNP yakoreshejwe cyane mu isesengura ry’imiterere y’ubukungu, kubaka ikarita y’ibinyabuzima ihuza abantu, no gusuzuma gene yanduye., Indwara zo gusuzuma no guhanura, gusuzuma imiti kugiti cye, hamwe nubundi bushakashatsi bwibinyabuzima nubuvuzi.Mu rwego rwo korora amafaranga y’ibihingwa, kumenya SNP birashobora kumenya guhitamo hakiri kare imico isabwa.Iri hitamo rifite ibimenyetso biranga ukuri kandi birashobora kwirinda rwose kwivanga kwa morphologie nibidukikije, bityo bigabanya cyane ubworozi.Kubwibyo, SNP igira uruhare runini mubushakashatsi bwibanze.

Nucleotide Polymorphism imwe (Nucleotide Polymorphism imwe, SNP) bivuga ibintu byerekana ko hariho itandukaniro rya nucleotide imwe mumwanya umwe murwego rwa ADN ikurikirana yabantu bafite ubwoko bumwe cyangwa butandukanye.Kwinjiza, gusiba, guhindura no guhinduranya ishingiro rimwe byose bishobora gutera itandukaniro.Mubihe byashize, ibisobanuro bya SNP byari bitandukanye nibya mutation.Inzige zitandukanye zisaba ko inshuro imwe muri alleles mubaturage irenze 1% kugirango bisobanurwe nka SNP.Ariko, hamwe no kwagura ibitekerezo bya biologiya bigezweho no gukoresha ikoranabuhanga, allele inshuro ntikiri ikintu gikenewe kugirango ugabanye ibisobanuro bya SNP.Dukurikije imibare imwe itandukanye ya nucleotide yashyizwe mububiko bumwe bwa Nucleotide Polymorphism (dbSNP) munsi yikigo cyigihugu gishinzwe amakuru y’ibinyabuzima (NCBI), kwinjiza inshuro nke / gusiba, guhinduranya microsatellite, nibindi nabyo birimo.

Mu mubiri w'umuntu, inshuro ya SNP ni 0.1%.Muyandi magambo, hari impuzandengo yurubuga rumwe rwa SNP kuri 1000 shingiro.Nubwo inshuro ziboneka ari ndende, ntabwo SNP zose zishobora kuba ibimenyetso byabakandida bijyanye nimico.Ibi ahanini bifitanye isano na SNP ibera.

Mubyukuri, SNP irashobora kugaragara ahantu hose muburyo bwa genome.SNPs ibera mukarere ka code irashobora kubyara ihinduka ryimiterere ihindagurika hamwe nihinduka ridahuje, ni ukuvuga aside amine ihinduka cyangwa ntibihinduka mbere na nyuma ya mutation.Acide aminide yahinduwe mubisanzwe itera urunigi rwa peptide gutakaza imikorere yumwimerere (mutense mutense), kandi birashobora no gutuma abort bakuramo (mutation idafite ishingiro).SNPs iboneka mu turere tutari kode hamwe n’uturere twa intergenjiya bishobora kugira ingaruka kuri mRNA iterwa, imiterere ya RNA ikurikirana, hamwe nuburyo bwo guhuza ibintu byandikirwa hamwe na ADN.Umubano wihariye ugaragara ku gishushanyo:

Ubwoko bwa SNP:

Uburyo bwinshi busanzwe bwo kwandika SNP no kugereranya kwabo

Ukurikije amahame atandukanye, uburyo rusange bwo kumenya SNP bugabanijwemo ibyiciro bikurikira:

Kugereranya ibyiciro byuburyo bwo gutahura

Icyitonderwa: Urutonde ruri kumeza rukoreshwa muburyo busanzwe bwa SNP bwo kumenya, ubundi buryo bwo gutahura nka site yihariye yo kuvanga (ASH), kwagura urubuga rwihariye (ASPE), kwagura urubuga rumwe (SBCE), gukata urubuga rwihariye (ASC), tekinoroji ya chip, tekinoroji ya tekinoroji, nibindi byinshi ntabwo byashyizwe mubikorwa kandi bigereranijwe.

Igiciro nigihe cyo kweza aside nucleic muburyo bwavuzwe haruguru uburyo rusange bwo kumenya SNP ntibushobora kwirindwa.Nyamara, ibikoresho bifitanye isano bishingiye ku buhanga bwa PCR bwa Foregene birashobora gukora mu buryo butaziguye PCR cyangwa qPCR byongerewe imbaraga ku ngero zidafite ibyangombwa, bizana ibyoroshye bitigeze bibaho mu gutahura SNP.

Foregene itaziguye yibicuruzwa bya PCR byoroshye kandi hafi yo gukuraho intambwe yo kweza intambwe, bigabanya cyane igihe nigiciro gisabwa kugirango utegure inyandikorugero.Taq polymerase idasanzwe ifite ubushobozi bwo kongera imbaraga kandi irashobora kwihanganira ibintu bitandukanye byangiza ibintu biturutse ku bidukikije bigoye.Ibi biranga bitanga garanti tekinike yo kubona ibicuruzwa byihariye bitanga umusaruro mwinshi.Foregene Direct PCR / qPCR ibikoresho byubwoko butandukanye bwintangarugero, nka: inyama zinyamanswa (umurizo wimbeba, zebrafish, nibindi), amababi yibiti, imbuto (harimo polysaccharide na polifenol), nibindi.