Qhov Tseem Ceeb - SNP vs Mutation
DNA variations yog qhov tseem ceeb ntawm cov tib neeg. Ib leeg nucleotide polymorphism (SNP) thiab kev hloov pauv yog ob qhov kev hloov pauv uas ua rau muaj qhov sib txawv ntawm nucleotide hauv cov kab mob. Qhov sib txawv tseem ceeb ntawm SNP thiab kev hloov pauv yog SNP sawv cev rau ib qho nucleotide sib txawv hauv DNA thaum kev hloov pauv sawv cev rau txhua qhov kev hloov pauv ntawm DNA suav nrog ib leeg rau ntau qhov sib txawv nucleotide. SNP yog ib hom kev hloov pauv.
SNP yog dab tsi?
Single Nucleotide Polymorphism (SNP) yog txhais tias yog qhov sib txawv ntawm ib qho nucleotide ntawm DNA ntawm ib qho chaw tshwj xeeb hauv genome. Hauv cov tib neeg feem ntau, tib lub hauv paus kab ke tuaj yeem tshwm sim thaum qee tus neeg tuaj yeem muaj qhov sib txawv nucleotide nyob rau tib qhov chaw ntawm DNA. Cov no yog cov SNPs uas ua rau cov phenotypic variations, variation ntawm anthropometric yam ntxwv, kab mob probability yam ntxwv thiab cov lus teb rau ib puag ncig. Qhov no yog qhov kev hloov pauv caj ces feem ntau pom ntawm cov neeg. Nws tau xav tias hauv txhua 300 nucleotides, ib SNP tuaj yeem pom. Qhov no qhia tau tias muaj ntau dua 10 lab SNPs hauv tib neeg genome. SNPs nyob rau hauv tib neeg genome muab ib qho kev pab rau daim ntawv qhia txoj kev genetic traits.
SNP yog ib hom kev hloov pauv hu ua point mutation. Thaum SNP tshwm sim hauv ib lub noob lossis hauv cheeb tsam tswj hwm ntawm cov noob, nws cuam tshuam rau kev ua haujlwm ntawm cov noob los ntawm kev ua kom muaj kev cuam tshuam ntau dua rau tus kab mob. Feem ntau SNPs tsis cuam tshuam rau kev noj qab haus huv lossis kev loj hlob. Txawm li cas los xij, qee qhov kev sib txawv ntawm caj ces tau ua pov thawj tias tseem ceeb heev hauv kev kawm txog tib neeg kev noj qab haus huv. Cov kws tshawb fawb tau pom SNPs uas tuaj yeem pab kwv yees tus tib neeg cov lus teb rau qee yam tshuaj, cuam tshuam rau ib puag ncig yam xws li co toxins, thiab kev pheej hmoo ntawm kev tsim kab mob tshwj xeeb.
Qee yam kab mob uas paub zoo xws li mob qog noj ntshav, β thalassemia thiab cystic fibrosis tshwm sim los ntawm SNPs. Tib neeg qhia cov theem sib txawv rau ntau hom kab mob tib neeg. Nws yog feem ntau vim yog SNPs hauv tib neeg genome. Qhov mob hnyav thiab yuav ua li cas lub cev teb rau kev kho mob kuj tau txiav txim siab los ntawm SNPs pom nyob rau hauv tib neeg genome. Piv txwv li, cov tib neeg uas muaj ib qho kev hloov pauv hauv APOE gene (apolipoprotein gene) qhia tias muaj kev pheej hmoo siab dua ntawm Alzheimer's disease.
DNA sequencing yuav pab kom paub txog SNPs. Pyrosequencing yog cov txheej txheem kev sib tw siab uas tso cai rau kev txheeb xyuas cov kev hloov pauv hloov pauv (SNPs) ntawm ntau qhov sib npaug los ntawm kev tsim cov kab ke tshwj xeeb. Kev kuaj pom ntawm ib leeg nucleotide polymorphisms los ntawm PCR yog qhov tsim nyog rau ntau hom kev tshuaj ntsuam genetic tsom xam, los ntawm daim phiaj genomes mus rau kev taug qab cov kev hloov pauv tshwj xeeb. SNPs uas nyob nruab nrab ntawm cov noob yog siv los ua cov cim lom neeg los txheeb xyuas thiab nrhiav cov kab mob ua rau cov noob.
Daim duab 1: SNP kev hloov pauv qhov twg cytosine hloov los ntawm thymine
Kev hloov pauv yog dab tsi?
Kev hloov pauv yog hais txog kev hloov pauv hauv DNA ib ntus. Kev hloov pauv yog tshwm sim los ntawm kev nkag ntawm nucleotides, tshem tawm ntawm nucleotides, inversion ntawm nucleotides, duplication ntawm nucleotides thiab rov kho cov nucleotides hauv DNA. Cov kev hloov pauv no ua rau muaj qhov tsis zoo lossis qhov zoo ntawm cov phenotypes, thiab qee qhov kev hloov pauv tau txais los ntawm cov tiam tom ntej. Kev hloov pauv tau tshwm sim thaum lub sijhawm DNA rov ua dua lossis vim muaj qhov sib txawv ib puag ncig xws li UV teeb, luam yeeb, hluav taws xob, thiab lwm yam.
nplai me me thiab qhov hloov pauv loj yog pom hauv DNA. Kev hloov pauv me me tshwm sim vim kev tshem tawm, ntxig, sib tshooj, qhov sib txawv ntawm nucleotide ib leeg, kev hloov pauv, thiab lwm yam. Cov kev hloov pauv loj tshwm sim vim kev tshem tawm ntawm thaj chaw loj, kev tsim tawm ntawm tus lej hloov pauv, tshem tawm cov noob, poob ntawm cov noob luam, thiab kev txav ntawm Cov ntu loj ntawm DNA los ntawm qhov chaw qub, thiab lwm yam. Kev hloov pauv yuav ua rau muaj kev hloov pauv ntawm cov qauv noob uas qhia txog cov protein tsis raug. Qee zaum kev hloov pauv ua rau muaj cov yam ntxwv zoo thiab cov protein zoo. Kev hloov pauv yog qhov tseem ceeb rau evolution. Txwv tsis pub, cov pej xeem yuav tsis tuaj yeem hloov mus rau qhov hloov pauv thiab nyuaj ib puag ncig. Yog li ntawd, kev hloov pauv yog suav tias yog lub zog tsav tom qab evolution. Txawm li cas los xij, kev hloov pauv feem ntau yog nruab nrab.
Daim duab 2: DNA Mutation
Qhov txawv ntawm SNP thiab Kev Hloov Pauv yog dab tsi?
SNP vs Mutation |
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SNP yog DNA variation vim ib leeg nucleotide sib txawv hauv DNA. | Kev hloov pauv yog qhov hloov pauv DNA vim muaj kev hloov pauv tshwm sim hauv DNA ntu. |
Kev hloov pauv | |
Qhov no suav nrog ib qho kev hloov pauv hauv DNA. | Qhov no suav nrog ib zaug rau ntau qhov kev hloov pauv nucleotide. |
SNP muaj ntau heev thiab tam sim no ntawm ntau tshaj 1% hauv cov pejxeem. | Kev hloov pauv tsawg heev thiab muaj nyob ntawm qhov zaus tsawg dua 1% ntawm cov pejxeem. |
Summary – SNP vs Mutation
Kev hloov pauv yog txhais tau tias muaj kev hloov pauv tshwm sim hauv DNA ib ntus piv rau cov DNA ib txwm muaj. Cov no yog cov kev hloov pauv uas tshwm sim los ntawm kev ua yuam kev ntawm DNA replication lossis cuam tshuam ntawm qhov sib txawv ntawm ib puag ncig. Kev hloov pauv tshwm sim los ntawm kev ntxig, tshem tawm, thim rov qab, duplications thiab rov kho cov nucleotides. Gene mutations ua rau kev hloov pauv ntawm cov qauv thiab kev ua haujlwm ntawm cov noob, ua rau muaj qhov sib txawv tseem ceeb hauv cov tiam tom ntej. Txawm li cas los xij, cov kab mob qub txeeg qub teg tsis tshua muaj tshwm sim los ntawm kev hloov pauv vim tus kab mob qub qub feem ntau rov ua dua. SNP yog ib qho kev hloov pauv nucleotide hauv ib qho DNA ib ntus ntawm cov tib neeg. Hauv SNPs, tsuas yog ib qho nucleotide sib txawv tuaj yeem pom ntawm qhov chaw tshwj xeeb ntawm qhov sib lawv liag. SNP kuj yog ib hom kev hloov pauv uas hu ua point mutation raws li nws hloov DNA los ntawm kev hloov ib nucleotide los ntawm kev txiav txim siab ua ntu zus.