Ka mor'a hore setsebi sa Amerika Eric S. Lander se bue ka mokhoa o tloaelehileng oa "nucleotide polymorphism" (SNP) e le letšoao la moloko oa boraro oa limolek'hule ka 1996, SNP e 'nile ea sebelisoa haholo tlhahlobo ea mekhoa ea moruo, kaho ea liphatsa tsa lefutso tsa liphatsa tsa lefutso, le tlhahlobo ea liphatsa tsa lefutso tsa batho., Tlhahlobo ea kotsi ea mafu le ho bolela esale pele, tlhahlobo ea lithethefatsi ka bomong, le likarolo tse ling tsa lipatlisiso tsa baeloji le tsa bongaka.Lefapheng la tlhahiso ea lijalo tsa chelete, ho lemoha SNP ho ka lemoha khetho ea pele ea litšobotsi tse hlokahalang.Khetho ena e na le litšobotsi tsa ho nepahala ho phahameng 'me e ka qoba ka katleho ho kena-kenana le morphology le maemo a tikoloho, kahoo e khutsufatsa haholo mokhoa oa ho ikatisa.Ka hona, SNP e bapala karolo e kholo lefapheng la lipatlisiso tsa mantlha.

Single Nucleotide Polymorphism (Single Nucleotide Polymorphism, SNP) e bua ka ketsahalo ea hore ho na le phapang e le 'ngoe ea nucleotide sebakeng se le seng sa tatellano ea DNA ea batho ba mefuta e tšoanang kapa e fapaneng.Ho kenya, ho hlakoloa, ho fetola le ho fetola motheo o le mong ho ka baka phapang ena.Nakong e fetileng, tlhaloso ea SNP e ne e fapane le ea phetoho ea phetoho.Sebaka se fapaneng se hloka hore khafetsa ea e 'ngoe ea li-alleles ho baahi e be khōlō ho feta 1% e le hore e ka hlalosoa e le sebaka sa SNP.Leha ho le joalo, ka ho atolosoa ha likhopolo tsa morao-rao tsa likokoana-hloko le tšebeliso ea theknoloji, allele frequency ha e sa le boemo bo hlokahalang ho fokotsa tlhaloso ea SNP.Ho ea ka lintlha tse fapaneng tsa nucleotide tse kenyelletsoeng ho Single Nucleotide Polymorphisms (dbSNP) database tlas'a Setsi sa Sechaba sa Boitsebiso ba Biotechnology (NCBI), ho kenya / ho tlosoa ha maqhubu a tlaase, ho fapana ha microsatellite, joalo-joalo le tsona li kenyelelitsoe.

'Meleng oa motho, sekhahla sa SNP ke 0.1%.Ka mantsoe a mang, ho na le karolelano ea sebaka se le seng sa SNP ho li-pair tsa 1000 tsa motheo.Le hoja makhetlo a liketsahalo a batla a le holimo, ha se libaka tsohle tsa SNP tse ka bang matšoao a amanang le litšobotsi.Sena se amana haholo-holo le sebaka seo SNP e hlahang ho sona.

Ka khopolo, SNP e ka etsahala kae kapa kae ka tatellano ea genome.Li-SNP tse hlahang sebakeng sa coding li ka hlahisa liphetoho tse tšoanang le liphetoho tse sa tšoaneng, ke hore, amino acid e fetoha kapa e sa fetohe pele le ka mor'a phetoho.Amino acid e fetohileng hangata e etsa hore ketane ea peptide e lahleheloe ke mosebetsi oa eona oa mantlha (messense mutation), hape e ka etsa hore phetolelo e felisoe (nonsense mutation).Li-SNP tse hlahang libakeng tseo e seng tsa likhoutu le libaka tsa intergenic li ka ama splicing ea mRNA, sebopeho sa tatellano ea RNA e sa ngolisoeng, le katleho e tlamang ea lintlha tsa mongolo le DNA.Kamano e khethehileng e bontšoa setšoantšong:

Mefuta ea SNP:

Mekhoa e mengata e tloaelehileng ea ho thaepa ea SNP le papiso ea bona

Ho ea ka melao-motheo e fapaneng, mekhoa e tloaelehileng ea ho lemoha SNP e arotsoe ka mekhahlelo e latelang:

Papiso ea lihlopha tsa mekhoa ea ho lemoha

Tlhokomeliso: Ho thathamisitsoe tafoleng hona joale ho sebelisoa mekhoa e mengata e tloaelehileng ea ho lemoha SNP, mekhoa e meng ea ho lemoha e kang hybridization ea sebaka se itseng (ASH), sebaka se itseng sa primer extension (ASPE), single base extension (SBCE), specific site cutting (ASC), gene chip technology, mass spectrometry technology, joalo-joalo ha e e-s'o aroloe le ho bapisoa.

Litsenyehelo le nako ea tlhoekiso ea nucleic acid ho mekhoa e 'maloa e tloaelehileng ea ho lemoha SNP e ke ke ea qojoa.Leha ho le joalo, lisebelisoa tse amanang le tsona tse ipapisitseng le tekhenoloji ea PCR e tobileng ea Foregene li ka etsa ntlafatso ea PCR kapa qPCR ka lisampole tse sa hloekang, e leng se tlisang boiketlo bo neng bo e-s'o ka bo e-ba teng ba ho lemoha ha SNP.

Lihlahisoa tsa Foregene tse tobileng tsa PCR li bonolo ebile li siea mehato ea tlhoekiso, e fokotsang nako le litšenyehelo tse hlokahalang ho lokisa litempele.Taq polymerase e ikhethang e na le bokhoni bo botle ba ho holisa 'me e khona ho mamella mefuta e fapaneng ea li-inhibitors ho tsoa libakeng tse rarahaneng tsa amplification.Litšobotsi tsena li fana ka tiisetso ea tekheniki bakeng sa ho fumana lihlahisoa tse khethehileng tsa lihlahisoa tse phahameng.Foregene Direct PCR/qPCR kits bakeng sa mefuta e fapaneng ea mehlala, joalo ka: li-tissue tsa liphoofolo (mohatla oa likhoto, liqoaha, joalo-joalo), makhasi a semela, lipeo (ho kenyeletsoa li-polysaccharides le sampuli tsa polyphenol), joalo-joalo.