Tom qab tus kws tshawb fawb Asmeskas Eric S. Lander tau tsim tawm ib qho nucleotide polymorphism (SNP) ua tus cim thib peb hauv xyoo 1996, SNP tau siv dav hauv kev txheeb xyuas kev lag luam kev lag luam, kev siv tshuaj lom neeg txuas nrog daim ntawv qhia, thiab kev tshuaj xyuas tib neeg kab mob., Kev kuaj mob pheej hmoo thiab kev kwv yees, kev tshuaj ntsuam xyuas tus kheej ntawm cov tshuaj, thiab lwm yam kev tshawb fawb lom neeg thiab kev kho mob.Hauv kev cog qoob loo ntawm cov nyiaj ntsuab, kev tshawb pom ntawm SNP tuaj yeem paub txog kev xaiv ntxov ntawm qhov yuav tsum tau muaj.Qhov kev xaiv no muaj cov yam ntxwv ntawm qhov raug siab thiab tuaj yeem zam qhov cuam tshuam ntawm morphology thiab ib puag ncig, yog li ua kom luv luv ntawm kev yug me nyuam.Yog li ntawd, SNP plays lub luag haujlwm loj hauv kev tshawb fawb hauv paus.

Tib Nucleotide Polymorphism (Single Nucleotide Polymorphism, SNP) yog hais txog qhov tshwm sim uas muaj ib qho nucleotide sib txawv nyob rau hauv tib txoj hauj lwm nyob rau hauv DNA ib theem zuj zus ntawm tib neeg los yog txawv hom.Kev ntxig, tshem tawm, hloov dua siab tshiab thiab inversion ntawm ib lub hauv paus tuaj yeem ua rau qhov sib txawv no.Yav dhau los, lub ntsiab lus ntawm SNP txawv ntawm qhov kev hloov pauv.Ib qho chaw sib txawv yuav tsum tau hais tias qhov zaus ntawm ib qho ntawm cov alleles hauv cov pej xeem muaj ntau dua 1% thiaj li yuav tsum tau txhais tias yog SNP qhov chaw.Txawm li cas los xij, nrog kev nthuav dav ntawm cov kev tshawb xav lom neeg niaj hnub no thiab kev siv thev naus laus zis, allele zaus tsis yog qhov tsim nyog los txwv cov ntsiab lus ntawm SNP.Raws li cov ntaub ntawv sib txawv ntawm cov nucleotide ib leeg suav nrog hauv Ib Leeg Nucleotide Polymorphisms (dbSNP) database nyob rau hauv National Center for Biotechnology Information (NCBI), low-frequency insertion/deletion, microsatellite variation, etc.

Hauv tib neeg lub cev, qhov zaus ntawm SNP yog 0.1%.Hauv lwm lo lus, muaj qhov nruab nrab ntawm ib qhov chaw SNP rau 1000 lub hauv paus khub.Txawm hais tias qhov zaus ntawm qhov tshwm sim yog qhov siab, tsis yog txhua qhov chaw SNP tuaj yeem yog tus neeg sib tw cov cim ntsig txog qhov zoo.Qhov no feem ntau cuam tshuam nrog qhov chaw uas SNP tshwm sim.

Txoj kev xav, SNP tuaj yeem tshwm sim nyob qhov twg hauv genome ib ntus.SNPs tshwm sim hauv cheeb tsam coding tuaj yeem tsim cov kev hloov pauv sib txawv thiab cov kev hloov tsis sib xws, uas yog, cov amino acid hloov pauv lossis tsis hloov ua ntej thiab tom qab kev hloov pauv.Cov amino acid hloov pauv feem ntau ua rau cov saw peptide poob nws qhov kev ua haujlwm qub (missense mutation), thiab tseem tuaj yeem ua rau kev rho menyuam tawm (tsis muaj qhov hloov pauv).SNPs uas tshwm sim hauv cheeb tsam tsis-coding thiab cheeb tsam intergenic tej zaum yuav cuam tshuam rau mRNA splicing, tsis-coding RNA ib ntus muaj pes tsawg leeg, thiab kev sib txuas ua haujlwm ntawm cov khoom hloov pauv thiab DNA.Qhov kev sib raug zoo tshwj xeeb yog qhia hauv daim duab:

SNP Hom:

Muaj ntau txoj hauv kev SNP ntaus ntawv thiab lawv qhov sib piv

Raws li cov hauv paus ntsiab lus sib txawv, txoj kev tshawb pom SNP feem ntau tau muab faib ua pawg hauv qab no:

Kev sib piv ntawm cov txheej txheem tshawb nrhiav

Lus Cim: Tam sim no tau siv ntau txoj hauv kev SNP nrhiav kom pom, lwm txoj hauv kev tshawb pom xws li qhov chaw tshwj xeeb hybridization (ASH), qhov chaw tshwj xeeb primer txuas ntxiv (ASPE), ib lub hauv paus txuas ntxiv (SBCE), qhov chaw tshwj xeeb txiav (ASC), gene chip technology, mass spectrometry technology, thiab lwm yam tsis tau muab cais thiab muab piv.

Tus nqi thiab lub sij hawm ntawm nucleic acid purification nyob rau hauv cov saum toj no ob peb hom SNP nrhiav kom tau txoj kev yog unavoidable.Txawm li cas los xij, cov khoom siv cuam tshuam raws li Foregene's ncaj qha PCR thev naus laus zis tuaj yeem ua ncaj qha rau PCR lossis qPCR amplification ntawm cov qauv tsis huv, uas ua rau kev yooj yim tsis tau pom dua los rau SNP nrhiav pom.

Foregene's ncaj qha PCR series cov khoom lag luam yooj yim thiab roughly tshem tawm cov qauv ua kom huv si, uas txo cov sij hawm thiab cov nqi tsim nyog los npaj cov qauv.Qhov tshwj xeeb Taq polymerase muaj peev xwm ua kom zoo tshaj plaws thiab tuaj yeem zam ntau yam inhibitors los ntawm qhov chaw ua kom nrov nrov.Cov yam ntxwv no muab kev lav phib xaub kom tau txais cov khoom muaj txiaj ntsig zoo.Foregene Direct PCR/qPCR cov khoom siv rau ntau hom qauv, xws li: cov ntaub so ntswg (rat tail, zebrafish, thiab lwm yam), nplooj nplooj, noob (xws li polysaccharides thiab polyphenol kuaj), thiab lwm yam.